19-18572470-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572470
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572470
    reference: chr 19
allele count: 3
allele frequency: 2.50325423049965e-5
allele num: 119844
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.662G>A
  hgvsp: ENSP00000262809.3:p.Arg221His
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.263G>A
  hgvsp: ENSP00000475648.2:p.Arg88His
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*497G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8793
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3700
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4066
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23539
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg221His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-18572471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572471
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572471
    reference: chr 19
allele count: 1
allele frequency: 8.34153584357952e-6
allele num: 119882
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.661C>T
  hgvsp: ENSP00000262809.3:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*496C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.262C>T
  hgvsp: ENSP00000475648.2:p.Arg88Cys
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg221Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

19-18572472-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572472
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572472
    reference: chr 19
allele count: 13
allele frequency: 1.084327300025023e-4
allele num: 119890
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.660C>T
  hgvsp: ENST00000262809.4:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*495C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.261C>T
  hgvsp: ENST00000596124.3:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8440
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23539
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 13218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3923
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr220Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

19-18572475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572475
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572475
    reference: chr 19
allele count: 1
allele frequency: 8.338892595063375e-6
allele num: 119920
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.657C>T
  hgvsp: ENST00000262809.4:c.657C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.258C>T
  hgvsp: ENST00000596124.3:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*492C>T
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4070
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro219Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

19-18572479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572479
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572479
    reference: chr 19
allele count: 1
allele frequency: 8.335695113615524e-6
allele num: 119966
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.653G>A
  hgvsp: ENSP00000262809.3:p.Arg218Gln
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*488G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.254G>A
  hgvsp: ENSP00000475648.2:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23527
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg218Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

19-18572480-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572480
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572480
    reference: chr 19
allele count: 1
allele frequency: 8.334722453742291e-6
allele num: 119980
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.652C>G
  hgvsp: ENSP00000262809.3:p.Arg218Gly
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*487C>G
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.253C>G
  hgvsp: ENSP00000475648.2:p.Arg85Gly
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23527
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4070
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg218Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

19-18572485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572485
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572485
    reference: chr 19
allele count: 2
allele frequency: 1.665639522294585e-5
allele num: 120074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*482C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.248C>T
  hgvsp: ENSP00000475648.2:p.Ala83Val
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.647C>T
  hgvsp: ENSP00000262809.3:p.Ala216Val
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23531
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala216Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

19-18572498-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572498
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572498
    reference: chr 19
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.235C>T
  hgvsp: ENST00000596124.3:c.235C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.634C>T
  hgvsp: ENST00000262809.4:c.634C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*469C>T
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3937
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23523
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu212Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-18572503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572503
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572503
    reference: chr 19
allele count: 1
allele frequency: 8.317391665973551e-6
allele num: 120230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.230G>A
  hgvsp: ENSP00000475648.2:p.Arg77Gln
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.629G>A
  hgvsp: ENSP00000262809.3:p.Arg210Gln
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*464G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23525
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg210Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

19-18572504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572504
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572504
    reference: chr 19
allele count: 1
allele frequency: 8.315455104857889e-6
allele num: 120258
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.628C>T
  hgvsp: ENSP00000262809.3:p.Arg210Ter
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*463C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.229C>T
  hgvsp: ENSP00000475648.2:p.Arg77Ter
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg210Ter
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

19-18572509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572509
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572509
    reference: chr 19
allele count: 2
allele frequency: 1.661709234118214e-5
allele num: 120358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.623G>A
  hgvsp: ENSP00000262809.3:p.Arg208His
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.224G>A
  hgvsp: ENSP00000475648.2:p.Arg75His
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*458G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23527
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg208His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-18572510-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572510
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572510
    reference: chr 19
allele count: 4
allele frequency: 3.323142363418849e-5
allele num: 120368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.622C>T
  hgvsp: ENSP00000262809.3:p.Arg208Cys
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.223C>T
  hgvsp: ENSP00000475648.2:p.Arg75Cys
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*457C>T
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23527
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3946
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3707
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg208Cys
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: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

19-18572531-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572531
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572531
    reference: chr 19
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.202G>A
  hgvsp: ENSP00000475648.2:p.Gly68Arg
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*436G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.601G>A
  hgvsp: ENSP00000262809.3:p.Gly201Arg
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4837
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly201Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

19-18572532-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572532
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572532
    reference: chr 19
allele count: 3
allele frequency: 2.488222413907504e-5
allele num: 120568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*435C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.600C>T
  hgvsp: ENST00000262809.4:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.201C>T
  hgvsp: ENST00000596124.3:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3975
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23528
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser200Ser
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-18572544-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572544
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572544
    reference: chr 19
allele count: 3
allele frequency: 2.485501242750621e-5
allele num: 120700
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.588G>A
  hgvsp: ENST00000262809.4:c.588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.189G>A
  hgvsp: ENST00000596124.3:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*423G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4098
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23530
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Val196Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

19-18572546-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572546
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572546
    reference: chr 19
allele count: 3
allele frequency: 2.48541887592789e-5
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.586G>A
  hgvsp: ENSP00000262809.3:p.Val196Met
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.187G>A
  hgvsp: ENSP00000475648.2:p.Val63Met
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*421G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23529
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Val196Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

19-18572547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572547
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572547
    reference: chr 19
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*420C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.186C>T
  hgvsp: ENST00000596124.3:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.585C>T
  hgvsp: ENST00000262809.4:c.585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2782
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4003
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala195Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

19-18572549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572549
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572549
    reference: chr 19
allele count: 2
allele frequency: 1.656342134031205e-5
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.184G>A
  hgvsp: ENSP00000475648.2:p.Ala62Thr
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.583G>A
  hgvsp: ENSP00000262809.3:p.Ala195Thr
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*418G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8955
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23528
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4920
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala195Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

19-18572551-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572551
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572551
    reference: chr 19
allele count: 5
allele frequency: 4.139415514529349e-5
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*416G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.182G>A
  hgvsp: ENSP00000475648.2:p.Ser61Asn
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.581G>A
  hgvsp: ENSP00000262809.3:p.Ser194Asn
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser194Asn
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

19-18572552-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572552
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572552
    reference: chr 19
allele count: 3
allele frequency: 2.483813813316554e-5
allele num: 120782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.181A>G
  hgvsp: ENSP00000475648.2:p.Ser61Gly
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*415A>G
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.580A>G
  hgvsp: ENSP00000262809.3:p.Ser194Gly
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14232
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23530
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser194Gly
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

19-18572560-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572560
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572560
    reference: chr 19
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.173G>A
  hgvsp: ENSP00000475648.2:p.Ser58Asn
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.572G>A
  hgvsp: ENSP00000262809.3:p.Ser191Asn
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*407G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23528
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser191Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

19-18572562-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572562
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572562
    reference: chr 19
allele count: 2
allele frequency: 1.654588173003739e-5
allele num: 120876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.171G>A
  hgvsp: ENST00000596124.3:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*405G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.570G>A
  hgvsp: ENST00000262809.4:c.570G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23529
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys190Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-18572570-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572570
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572570
    reference: chr 19
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.163A>T
  hgvsp: ENSP00000475648.2:p.Ile55Phe
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*397A>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.562A>T
  hgvsp: ENSP00000262809.3:p.Ile188Phe
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23529
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile188Phe
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

19-18572570-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572570
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572570
    reference: chr 19
allele count: 4
allele frequency: 3.30698766493601e-5
allele num: 120956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*397A>G
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.163A>G
  hgvsp: ENSP00000475648.2:p.Ile55Val
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.562A>G
  hgvsp: ENSP00000262809.3:p.Ile188Val
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23529
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile188Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

19-18572572-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572572
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572572
    reference: chr 19
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.560C>G
  hgvsp: ENSP00000262809.3:p.Ala187Gly
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.161C>G
  hgvsp: ENSP00000475648.2:p.Ala54Gly
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*395C>G
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4991
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23525
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala187Gly
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-18572577-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572577
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572577
    reference: chr 19
allele count: 24
allele frequency: 1.983667801765464e-4
allele num: 120988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*390G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.156G>A
  hgvsp: ENST00000596124.3:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.555G>A
  hgvsp: ENST00000262809.4:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23535
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala185Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-18572578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572578
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572578
    reference: chr 19
allele count: 2
allele frequency: 1.652947204866277e-5
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.554C>T
  hgvsp: ENSP00000262809.3:p.Ala185Val
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.155C>T
  hgvsp: ENSP00000475648.2:p.Ala52Val
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*389C>T
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23524
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala185Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

19-18572580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572580
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572580
    reference: chr 19
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.552G>A
  hgvsp: ENST00000262809.4:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.153G>A
  hgvsp: ENST00000596124.3:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*387G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4992
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14574
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23524
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu184Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

19-18572583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572583
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572583
    reference: chr 19
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.549C>T
  hgvsp: ENST00000262809.4:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*384C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.150C>T
  hgvsp: ENST00000596124.3:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn183Asn
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-18572584-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572584
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572584
    reference: chr 19
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*383A>G
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.149A>G
  hgvsp: ENSP00000475648.2:p.Asn50Ser
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.548A>G
  hgvsp: ENSP00000262809.3:p.Asn183Ser
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23524
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn183Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

19-18572592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572592
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572592
    reference: chr 19
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*375C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.540C>T
  hgvsp: ENST00000262809.4:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.141C>T
  hgvsp: ENST00000596124.3:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23526
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14642
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr180Thr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

19-18572594-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572594
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572594
    reference: chr 19
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.139A>G
  hgvsp: ENSP00000475648.2:p.Thr47Ala
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*373A>G
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.538A>G
  hgvsp: ENSP00000262809.3:p.Thr180Ala
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23525
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr180Ala
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

19-18572599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572599
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572599
    reference: chr 19
allele count: 3
allele frequency: 2.477659767760691e-5
allele num: 121082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*368G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.134G>A
  hgvsp: ENSP00000475648.2:p.Arg45Gln
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.533G>A
  hgvsp: ENSP00000262809.3:p.Arg178Gln
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23527
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14613
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg178Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-18572600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572600
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572600
    reference: chr 19
allele count: 2
allele frequency: 1.651909607506277e-5
allele num: 121072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*367C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.133C>T
  hgvsp: ENSP00000475648.2:p.Arg45Trp
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.532C>T
  hgvsp: ENSP00000262809.3:p.Arg178Trp
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23529
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg178Trp
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

19-18572605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572605
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572605
    reference: chr 19
allele count: 2
allele frequency: 1.651936896010573e-5
allele num: 121070
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*362G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.128G>A
  hgvsp: ENSP00000475648.2:p.Arg43Gln
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.527G>A
  hgvsp: ENSP00000262809.3:p.Arg176Gln
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7725
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23529
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg176Gln
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

19-18572606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572606
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572606
    reference: chr 19
allele count: 3
allele frequency: 2.477905344015859e-5
allele num: 121070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*361C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.526C>T
  hgvsp: ENSP00000262809.3:p.Arg176Trp
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.127C>T
  hgvsp: ENSP00000475648.2:p.Arg43Trp
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23527
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg176Trp
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-18572611-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572611
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572611
    reference: chr 19
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.521C>G
  hgvsp: ENSP00000262809.3:p.Pro174Arg
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*356C>G
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.122C>G
  hgvsp: ENSP00000475648.2:p.Pro41Arg
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23527
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4991
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro174Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/19-18572613-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572613
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572613
    reference: chr 19
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*354G>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.519G>T
  hgvsp: ENST00000262809.4:c.519G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.120G>T
  hgvsp: ENST00000596124.3:c.120G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23525
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val173Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/19-18572616-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572616
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572616
    reference: chr 19
allele count: 836
allele frequency: 6.912404292966877e-3
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.516G>T
  hgvsp: ENST00000262809.4:c.516G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*351G>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.117G>T
  hgvsp: ENST00000596124.3:c.117G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 4.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.75e1
  variant carriers: 463
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23852
  bin: 9.75e1
  variant carriers: 831
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala172Ala
num of homozygotes: 5
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

19-18572616-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572616
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572616
    reference: chr 19
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*351G>C
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.117G>C
  hgvsp: ENST00000596124.3:c.117G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.516G>C
  hgvsp: ENST00000262809.4:c.516G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23852
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala172Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-18572616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572616
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572616
    reference: chr 19
allele count: 13
allele frequency: 1.074895404408725e-4
allele num: 120942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.117G>A
  hgvsp: ENST00000596124.3:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.516G>A
  hgvsp: ENST00000262809.4:c.516G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*351G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23852
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala172Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-18572617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572617
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572617
    reference: chr 19
allele count: 1
allele frequency: 8.270751315049459e-6
allele num: 120908
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.515C>T
  hgvsp: ENSP00000262809.3:p.Ala172Val
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*350C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.116C>T
  hgvsp: ENSP00000475648.2:p.Ala39Val
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23395
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14481
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala172Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

19-18572618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572618
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572618
    reference: chr 19
allele count: 1
allele frequency: 8.271024945411235e-6
allele num: 120904
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.514G>A
  hgvsp: ENSP00000262809.3:p.Ala172Thr
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.115G>A
  hgvsp: ENSP00000475648.2:p.Ala39Thr
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*349G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23394
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14510
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala172Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

19-18572619-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572619
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572619
    reference: chr 19
allele count: 6
allele frequency: 4.963025460320612e-5
allele num: 120894
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.513C>T
  hgvsp: ENST00000262809.4:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.114C>T
  hgvsp: ENST00000596124.3:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*348C>T
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23396
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp171Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-18572627-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572627
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572627
    reference: chr 19
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*340G>C
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.505G>C
  hgvsp: ENSP00000262809.3:p.Ala169Pro
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.106G>C
  hgvsp: ENSP00000475648.2:p.Ala36Pro
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4039
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala169Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

19-18572640-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572640
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572640
    reference: chr 19
allele count: 2
allele frequency: 1.668195846192343e-5
allele num: 119890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.93A>G
  hgvsp: ENST00000596124.3:c.93A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.492A>G
  hgvsp: ENST00000262809.4:c.492A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*327A>G
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23393
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13351
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys164Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-18572666-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572666
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572666
    reference: chr 19
allele count: 1
allele frequency: 8.521662064969151e-6
allele num: 117348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*305-4G>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.71-4G>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.470-4G>T
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23392
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3626
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
hgvs: c.470-4G>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/19-18572673-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572673
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572673
    reference: chr 19
allele count: 47
allele frequency: 4.023352565529285e-4
allele num: 116818
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.470-11T>G
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*305-11T>G
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.71-11T>G
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8023
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10186
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

19-18572677-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572677
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572677
    reference: chr 19
allele count: 1
allele frequency: 8.60141063134354e-6
allele num: 116260
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.470-15G>C
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*305-15G>C
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.71-15G>C
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3995
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-18572684-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572684
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572684
    reference: chr 19
allele count: 1
allele frequency: 8.665511265164645e-6
allele num: 115400
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.470-22A>G
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*305-22A>G
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.71-22A>G
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9513
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23382
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

19-18572693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572693
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572693
    reference: chr 19
allele count: 2
allele frequency: 1.756913454443234e-5
allele num: 113836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.71-31C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.470-31C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*305-31C>T
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3076
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23379
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3986
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-18572700-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572700
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572700
    reference: chr 19
allele count: 1
allele frequency: 8.884624269239653e-6
allele num: 112554
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.470-38G>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.71-38G>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*305-38G>T
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23377
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 120
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-18572700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572700
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572700
    reference: chr 19
allele count: 3
allele frequency: 2.665387280771896e-5
allele num: 112554
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.71-38G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.470-38G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*305-38G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4127
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3968
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-18572707-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18572707
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18572707
    reference: chr 19
allele count: 2
allele frequency: 1.787789398408867e-5
allele num: 111870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.71-45C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.470-45C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*305-45C>T
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7720
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23369
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

19-18576178-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576178
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576178
    reference: chr 19
allele count: 1
allele frequency: 9.99960001599936e-6
allele num: 100004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*304+44G>C
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.70+44G>C
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.469+44G>C
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5902
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1941
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-18576181-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576181
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576181
    reference: chr 19
allele count: 7
allele frequency: 7.135285003669575e-5
allele num: 98104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.70+41G>C
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*304+41G>C
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.469+41G>C
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7782
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8297
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12625
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5221
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

19-18576183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576183
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576183
    reference: chr 19
allele count: 8
allele frequency: 7.911861858891944e-5
allele num: 101114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*304+39C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.70+39C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.469+39C>T
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-18576186-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576186
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576186
    reference: chr 19
allele count: 1
allele frequency: 9.847365829640572e-6
allele num: 101550
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.469+36G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.70+36G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*304+36G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-18576187-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576187
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576187
    reference: chr 19
allele count: 3
allele frequency: 2.951129298811679e-5
allele num: 101656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.70+35C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.469+35C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*304+35C>T
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18263
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5781
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-18576198-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576198
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576198
    reference: chr 19
allele count: 1
allele frequency: 9.555844354407155e-6
allele num: 104648
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.469+24T>C
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*304+24T>C
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.70+24T>C
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23196
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14771
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1829
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6570
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

19-18576199-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576199
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576198
    reference: chr 19
allele count: 1
allele frequency: 9.538890054753228e-6
allele num: 104834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.70+22delG
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*304+22delG
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.469+22delG
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: GC
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-18576203-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576203
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576203
    reference: chr 19
allele count: 12
allele frequency: 1.125851425140262e-4
allele num: 106586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*304+19A>C
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.70+19A>C
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.469+19A>C
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24314
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-18576231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576231
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576231
    reference: chr 19
allele count: 3
allele frequency: 2.659008721548607e-5
allele num: 112824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*295C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.460C>T
  hgvsp: ENSP00000262809.3:p.Arg154Cys
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.61C>T
  hgvsp: ENSP00000475648.2:p.Arg21Cys
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg154Cys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

19-18576260-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576260
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576260
    reference: chr 19
allele count: 1
allele frequency: 8.534607834769993e-6
allele num: 117170
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.431G>A
  hgvsp: ENSP00000262809.3:p.Arg144Gln
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.32G>A
  hgvsp: ENSP00000475648.2:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*266G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg144Gln
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: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-18576261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576261
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576261
    reference: chr 19
allele count: 1
allele frequency: 8.519193743504115e-6
allele num: 117382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.31C>T
  hgvsp: ENSP00000475648.2:p.Arg11Ter
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*265C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.430C>T
  hgvsp: ENSP00000262809.3:p.Arg144Ter
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7009
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg144Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-18576264-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576264
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576264
    reference: chr 19
allele count: 1
allele frequency: 8.495887990212738e-6
allele num: 117704
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.427A>G
  hgvsp: ENSP00000262809.3:p.Ser143Gly
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.28A>G
  hgvsp: ENSP00000475648.2:p.Ser10Gly
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*262A>G
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser143Gly
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

19-18576266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576266
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576266
    reference: chr 19
allele count: 1
allele frequency: 8.49285750683675e-6
allele num: 117746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.26G>A
  hgvsp: ENSP00000475648.2:p.Arg9Gln
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*260G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.425G>A
  hgvsp: ENSP00000262809.3:p.Arg142Gln
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6990
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg142Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-18576268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576268
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576268
    reference: chr 19
allele count: 1
allele frequency: 8.474001762592366e-6
allele num: 118008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.24G>A
  hgvsp: ENST00000596124.3:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*258G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.423G>A
  hgvsp: ENST00000262809.4:c.423G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr141Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

19-18576271-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576271
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576271
    reference: chr 19
allele count: 1
allele frequency: 8.465393471488555e-6
allele num: 118128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.21G>A
  hgvsp: ENST00000596124.3:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.420G>A
  hgvsp: ENST00000262809.4:c.420G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*255G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7048
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1136
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genotype quality: GenotypeQuality
  all individuals: 34950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 488
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genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu140Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

19-18576280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576280
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576280
    reference: chr 19
allele count: 1
allele frequency: 8.452370890034655e-6
allele num: 118310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*246G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.12G>A
  hgvsp: ENST00000596124.3:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.411G>A
  hgvsp: ENST00000262809.4:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35030
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala137Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

19-18576281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576281
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576281
    reference: chr 19
allele count: 5
allele frequency: 4.225399722813778e-5
allele num: 118332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.11C>T
  hgvsp: ENSP00000475648.2:p.Ala4Val
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.410C>T
  hgvsp: ENSP00000262809.3:p.Ala137Val
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*245C>T
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26114
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6985
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala137Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

19-18576291-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576291
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576291
    reference: chr 19
allele count: 1
allele frequency: 8.426729586247577e-6
allele num: 118670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*235A>G
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.1A>G
  hgvsp: ENSP00000475648.2:p.Met1?
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.400A>G
  hgvsp: ENSP00000262809.3:p.Met134Val
  variant of: http://identifiers.org/hgnc/23114
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18361
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6987
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

19-18576299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576299
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576299
    reference: chr 19
allele count: 2
allele frequency: 1.686198465559396e-5
allele num: 118610
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.392G>A
  hgvsp: ENSP00000262809.3:p.Arg131Gln
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*227G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.-8G>A
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg131Gln
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

19-18576300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576300
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576300
    reference: chr 19
allele count: 16
allele frequency: 1.348845051424718e-4
allele num: 118620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*226C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.-9C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.391C>T
  hgvsp: ENSP00000262809.3:p.Arg131Trp
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26423
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18567
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 6931
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg131Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

19-18576301-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576301
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576301
    reference: chr 19
allele count: 35
allele frequency: 2.947964220137122e-4
allele num: 118726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.-10G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*225G>A
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.390G>A
  hgvsp: ENST00000262809.4:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26538
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18625
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 9.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala130Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-18576302-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18576302
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18576302
    reference: chr 19
allele count: 1
allele frequency: 8.424741781664392e-6
allele num: 118698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475681
  ensembl transcript: ENST00000594635
  gene symbol: ELL
  hgvsc: ENST00000594635.2:c.*224C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000475648
  ensembl transcript: ENST00000596124
  gene symbol: ELL
  hgvsc: ENST00000596124.3:c.-11C>T
  variant of: http://identifiers.org/hgnc/23114
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105656
  ensembl protein: ENSP00000262809
  ensembl transcript: ENST00000262809
  gene symbol: ELL
  hgvsc: ENST00000262809.4:c.389C>T
  hgvsp: ENSP00000262809.3:p.Ala130Val
  variant of: http://identifiers.org/hgnc/23114
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6991
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala130Val
num of homozygotes: 0
population: South Asian
reference allele: G

GenotypeQuality
all individuals: 158
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.568574300246703e-5
allele num: 65666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 2.334823e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

FS
type: SiteQuality
SIO_000300: 4.65e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

GenotypeQuality
all individuals: 23538
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65688
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

East Asian
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: 6544
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.027e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

QD
type: SiteQuality
SIO_000300: 7.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.56e-1

DP
type: SiteQuality
SIO_000300: 2.335433e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQ
type: SiteQuality
SIO_000300: 5.896e1

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

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

East Asian
type: Population
allele count: 13
allele frequency: 1.516565562295847e-3
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.335456e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

QD
type: SiteQuality
SIO_000300: 1.168e1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.471e0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52151421094273e-5
allele num: 65724
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.155e0

DP
type: SiteQuality
SIO_000300: 2.33569e6

FS
type: SiteQuality
SIO_000300: 2.299e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

QD
type: SiteQuality
SIO_000300: 5.99e0

GenotypeQuality
all individuals: 2697
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.166316771635176e-4
allele num: 8574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65760
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.796e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 2.802e0

DP
type: SiteQuality
SIO_000300: 2.336304e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 2.906e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

GenotypeQuality
all individuals: 3916
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520588771972508e-5
allele num: 65764
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 2.336632e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 2.546e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

QD
type: SiteQuality
SIO_000300: 1.44e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
all individuals: 4760
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.529519730804527e-4
allele num: 6538
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65816
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.41e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.337498e6

VQSLOD
type: SiteQuality
SIO_000300: -1.858e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.898e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.032e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.02e1

GenotypeQuality
all individuals: 4781
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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allele num: 65926
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InbreedingCoeff
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ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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QD
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GenotypeQuality
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variant carriers: 0

Other
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.516392199678525e-5
allele num: 65946
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 3.029660375071954e-5
allele num: 66014
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

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

Latino
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allele frequency: 1.733402669440111e-4
allele num: 11538
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.029568589432865e-5
allele num: 66016
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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Latino
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African
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East Asian
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European (Non-Finnish)
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allele frequency: 1.512218727316719e-5
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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GenotypeQuality
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variant carriers: 0

Other
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num of homozygotes: 0

Latino
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allele frequency: 8.659508139937652e-5
allele num: 11548
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South Asian
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European (Non-Finnish)
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allele num: 66154
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African
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East Asian
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European (Finnish)
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MQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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Other
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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FS
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VQSLOD
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.528985507246377e-5
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South Asian
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Other
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Latino
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African
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East Asian
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QD
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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GenotypeQuality
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Other
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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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South Asian
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East Asian
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BaseQRankSum
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DP
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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MQ
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InbreedingCoeff
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GenotypeQuality
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bin: 5.75e1
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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DP
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QD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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GenotypeQuality
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Other
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African
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European (Finnish)
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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DP
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GenotypeQuality
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East Asian
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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BaseQRankSum
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FS
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DP
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MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeQuality
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Other
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -4.531e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.613e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.336e1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-1

DP
type: SiteQuality
SIO_000300: 2.353346e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506977304921788e-5
allele num: 66358
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10338
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Latino
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allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.353783e6

MQ
type: SiteQuality
SIO_000300: 5.913e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.903e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.004e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.345e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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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: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.505933377507379e-5
allele num: 66404
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ReadPosRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.023733510029516e-5
allele num: 66404
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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African
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505661286437003e-5
allele num: 66416
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East Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 2.355519e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

FS
type: SiteQuality
SIO_000300: 8.56e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.18e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505434618974498e-5
allele num: 66426
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
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African
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allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
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South Asian
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allele count: 22
allele frequency: 1.332687181972377e-3
allele num: 16508
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.26e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 2.35716e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.51e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 1.111111111111111e-3
allele num: 900
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.75e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.06e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

DP
type: SiteQuality
SIO_000300: 2.356393e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.702e1

VQSLOD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.676e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.34e-1

DP
type: SiteQuality
SIO_000300: 2.356417e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

East Asian
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South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.378e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

African
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allele frequency: 9.650646593321752e-5
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East Asian
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European (Finnish)
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South Asian
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Latino
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Other
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ReadPosRankSum
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InbreedingCoeff
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QD
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
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FS
type: SiteQuality
SIO_000300: 7.77e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.356736e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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allele num: 16506
num of homozygotes: 0

African
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allele frequency: 9.643201542912247e-5
allele num: 10370
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East Asian
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele num: 900
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
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num of homozygotes: 0

Other
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South Asian
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6606
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European (Non-Finnish)
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allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
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allele num: 16502
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.007609251406057e-5
allele num: 66498
num of homozygotes: 0

ClippingRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.358201e6

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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num of homozygotes: 0

East Asian
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European (Finnish)
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Other
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Latino
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allele frequency: 1.729206294310911e-4
allele num: 11566
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European (Non-Finnish)
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num of homozygotes: 0

South Asian
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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DP
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QD
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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East Asian
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Latino
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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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East Asian
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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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European (Non-Finnish)
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allele frequency: 3.007337904486948e-5
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Other
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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variant carriers: 0

East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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African
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South Asian
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Latino
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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DP
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QD
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GenotypeQuality
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Other
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Latino
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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South Asian
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FS
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VQSLOD
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QD
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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GenotypeQuality
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East Asian
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South Asian
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allele frequency: 4.275592474957244e-4
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Latino
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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DP
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QD
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10382
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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East Asian
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Latino
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European (Non-Finnish)
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allele num: 66478
num of homozygotes: 0

MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.03e-1

DP
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 8.646031471554557e-5
allele num: 11566
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African
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allele frequency: 1.155846657676748e-3
allele num: 10382
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European (Finnish)
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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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MQ
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DP
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QD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66468
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African
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East Asian
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South Asian
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Latino
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European (Finnish)
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allele num: 6612
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Other
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FS
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ReadPosRankSum
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MQ
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DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

African
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European (Finnish)
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Other
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Latino
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South Asian
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European (Non-Finnish)
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allele frequency: 7.523775129408932e-5
allele num: 66456
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FS
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MQRankSum
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QD
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DP
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ClippingRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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African
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South Asian
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East Asian
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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QD
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GenotypeQuality
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European (Non-Finnish)
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Other
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Latino
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African
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European (Finnish)
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South Asian
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East Asian
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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South Asian
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African
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East Asian
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Latino
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European (Non-Finnish)
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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QD
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InbreedingCoeff
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DP
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GenotypeQuality
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Latino
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East Asian
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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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South Asian
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allele frequency: 3.470683798552651e-3
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MQ
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 2.326e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

DP
type: SiteQuality
SIO_000300: 2.287396e6

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.533224985434363e-5
allele num: 65222
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 876
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.131e0

MQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 2.281105e6

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.934e1

ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.517e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.088e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 7.955449482895784e-5
allele num: 12570
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 858
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
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East Asian
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allele frequency: 0.0e0
allele num: 8590
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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African
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allele num: 10268
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MQ
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

FS
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 2.27226e6

VQSLOD
type: SiteQuality
SIO_000300: -8.38e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.95388823759281e-4
allele num: 10236
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64620
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.258906e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.295e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.800078400627205e-5
allele num: 10204
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8558
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64326
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.247131e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Finnish)
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allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.55458135124211e-5
allele num: 64326
num of homozygotes: 0

South Asian
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Latino
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allele frequency: 0.0e0
allele num: 11490
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African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 830
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.471e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.247131e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11480
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8536
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.117984534796708e-5
allele num: 64144
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.757901768449179e-5
allele num: 56886
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
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allele num: 9692
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VQSLOD
type: SiteQuality
SIO_000300: 7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.262499e6

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4712
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8138
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8096
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.255425230460203e-4
allele num: 55758
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.8331e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 5.765e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.49e-2

DP
type: SiteQuality
SIO_000300: 1.229162e6

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.588e1

QD
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

South Asian
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allele count: 0
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 2
allele frequency: 1.806684733514002e-4
allele num: 11070
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European (Non-Finnish)
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allele count: 6
allele frequency: 1.042209484106305e-4
allele num: 57570
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5070
num of homozygotes: 0

MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.235321e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele frequency: 1.140510948905109e-4
allele num: 8768
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57830
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5158
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East Asian
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allele num: 8214
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.727473742399115e-5
allele num: 57888
num of homozygotes: 0

South Asian
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East Asian
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Latino
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allele frequency: 0.0e0
allele num: 11104
num of homozygotes: 0

African
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allele frequency: 2.280501710376283e-4
allele num: 8770
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5110
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.94e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele frequency: 0.0e0
allele num: 9110
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5402
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 710
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Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59520
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East Asian
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allele count: 1
allele frequency: 1.202501202501203e-4
allele num: 8316
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
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allele num: 9142
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 5400
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East Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

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

East Asian
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allele frequency: 1.434034416826004e-3
allele num: 8368
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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FS
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

Latino
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allele num: 11354
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African
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allele num: 9952
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South Asian
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allele num: 12828
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East Asian
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European (Non-Finnish)
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allele frequency: 1.579130215077535e-5
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Other
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European (Finnish)
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DP
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.543305142292734e-5
allele num: 64796
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Latino
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East Asian
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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BaseQRankSum
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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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
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 1.168497312456181e-4
allele num: 8558
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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MQRankSum
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FS
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ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

GenotypeQuality
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variant carriers: 0

African
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allele frequency: 9.8833761612967e-5
allele num: 10118
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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FS
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MQRankSum
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele frequency: 0.0e0
allele num: 6104
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Other
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African
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.69e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.47104e6

GenotypeQuality
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variant carriers: 0

South Asian
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East Asian
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Latino
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European (Non-Finnish)
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allele frequency: 1.537704514700455e-5
allele num: 65032
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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DP
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BaseQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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Other
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Latino
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African
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MQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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DP
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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East Asian
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Latino
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European (Finnish)
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allele count: 0
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Other
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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DP
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InbreedingCoeff
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QD
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MQ
type: SiteQuality
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GenotypeQuality
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Other
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European (Finnish)
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African
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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African
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Other
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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MQ
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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DP
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QD
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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Other
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MQ
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DP
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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Other
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South Asian
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DP
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ReadPosRankSum
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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African
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Latino
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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FS
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DP
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MQ
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

GenotypeQuality
all individuals: 555
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16198
num of homozygotes: 0