7-73280118-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280118
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280118
    reference: chr 7
allele count: 1
allele frequency: 8.314487162431821e-6
allele num: 120272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*653G>A
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.713G>A
  hgvsp: ENSP00000316775.2:p.Gly238Glu
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36543
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly238Glu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9700
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

7-73280137-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280137
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280137
    reference: chr 7
allele count: 1
allele frequency: 8.329723786359244e-6
allele num: 120052
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.732A>G
  hgvsp: ENST00000320531.2:c.732A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*672A>G
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36540
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser244Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9654
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-73280138-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280138
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280138
    reference: chr 7
allele count: 1
allele frequency: 8.331805835596807e-6
allele num: 120022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*673C>A
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.733C>A
  hgvsp: ENSP00000316775.2:p.Leu245Met
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 8598
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36540
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu245Met
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16462
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

7-73280145-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280145
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280145
    reference: chr 7
allele count: 981
allele frequency: 8.185641333733853e-3
allele num: 119844
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.740C>T
  hgvsp: ENSP00000316775.2:p.Ala247Val
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*680C>T
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 9.75e1
  variant carriers: 914
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3346
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8488
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2583
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36551
  bin: 9.75e1
  variant carriers: 940
hgvs: p.Ala247Val
num of homozygotes: 40
population: South Asian
  type: Population
  allele count: 5
  allele frequency: 3.038405444822557e-4
  allele num: 16456
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

7-73280146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280146
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280146
    reference: chr 7
allele count: 15
allele frequency: 1.251731561994092e-4
allele num: 119834
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.741G>A
  hgvsp: ENST00000320531.2:c.741G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*681G>A
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36101
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala247Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 10
  allele frequency: 1.042535446205171e-3
  allele num: 9592
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

7-73280151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280151
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280151
    reference: chr 7
allele count: 7
allele frequency: 5.845804382683057e-5
allele num: 119744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*686C>T
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.746C>T
  hgvsp: ENSP00000316775.2:p.Ser249Leu
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2646
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8542
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36090
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser249Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.683570684265369e-5
  allele num: 11516
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

7-73280152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280152
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280152
    reference: chr 7
allele count: 38
allele frequency: 3.174019812565778e-4
allele num: 119722
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.747G>A
  hgvsp: ENST00000320531.2:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*687G>A
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36093
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
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genotype quality: GenotypeQuality
  all individuals: 661
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1741
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genotype quality: GenotypeQuality
  all individuals: 8535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser249Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 5
  allele frequency: 4.344048653344917e-4
  allele num: 11510
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-73280157-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280157
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280157
    reference: chr 7
allele count: 1
allele frequency: 8.360225391676559e-6
allele num: 119614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*692C>T
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.752C>T
  hgvsp: ENSP00000316775.2:p.Ser251Leu
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3197
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 8483
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 36074
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser251Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16436
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-73280170-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280170
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280170
    reference: chr 7
allele count: 2
allele frequency: 1.676474039799494e-5
allele num: 119298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*705A>G
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.765A>G
  hgvsp: ENST00000320531.2:c.765A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr255Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.102770657878677e-5
  allele num: 16386
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

7-73280171-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280171
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280171
    reference: chr 7
allele count: 1
allele frequency: 8.383916294979712e-6
allele num: 119276
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.766G>A
  hgvsp: ENSP00000316775.2:p.Val256Ile
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*706G>A
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 800
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 234
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2520
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genotype quality: GenotypeQuality
  all individuals: 1741
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3196
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genotype quality: GenotypeQuality
  all individuals: 18
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genotype quality: GenotypeQuality
  all individuals: 2640
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val256Ile
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65882
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/7-73280183-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280183
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280183
    reference: chr 7
allele count: 1
allele frequency: 8.419492809753141e-6
allele num: 118772
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.778C>A
  hgvsp: ENSP00000316775.2:p.Gln260Lys
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*718C>A
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4531
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 806
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
  all individuals: 53
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genotype quality: GenotypeQuality
  all individuals: 30
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 29
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 359
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genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7938
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln260Lys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16230
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

7-73280195-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280195
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280195
    reference: chr 7
allele count: 2
allele frequency: 1.694886527346994e-5
allele num: 118002
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.790A>G
  hgvsp: ENSP00000316775.2:p.Arg264Gly
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*730A>G
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5901
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
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genotype depth: GenotypeDepth
  all individuals: 493
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 516
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2614
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  variant carriers: 0
hgvs: p.Arg264Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.062022090059473e-4
  allele num: 9416
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

7-73280202-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280202
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280202
    reference: chr 7
allele count: 343
allele frequency: 2.921585662935895e-3
allele num: 117402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: stop_retained_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.797A>G
  hgvsp: ENST00000320531.2:c.797A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*737A>G
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 9.75e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 521
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  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1177
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 4532
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genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36095
  bin: 9.75e1
  variant carriers: 338
hgvs: p.Ter266Ter
num of homozygotes: 5
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8470
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

7-73280210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280210
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280210
    reference: chr 7
allele count: 1
allele frequency: 8.594461728861921e-6
allele num: 116354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*745C>T
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.*7C>T
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8452
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

7-73280215-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280215
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280215
    reference: chr 7
allele count: 9
allele frequency: 7.763439376164515e-5
allele num: 115928
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*750T>A
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.*12T>A
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2603
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11410
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-73280216-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280216
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280216
    reference: chr 7
allele count: 1
allele frequency: 8.650070065567531e-6
allele num: 115606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*751C>A
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.*13C>A
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9314
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

7-73280218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280218
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280218
    reference: chr 7
allele count: 1
allele frequency: 8.655460730174667e-6
allele num: 115534
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*753G>A
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.*15G>A
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35960
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11404
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

7-73280220-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280220
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280220
    reference: chr 7
allele count: 1
allele frequency: 8.681761355743853e-6
allele num: 115184
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000316775
  ensembl transcript: ENST00000320531
  gene symbol: WBSCR28
  hgvsc: ENST00000320531.2:c.*17C>G
  variant of: http://identifiers.org/hgnc/23018
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175877
  ensembl protein: ENSP00000403621
  ensembl transcript: ENST00000426490
  gene symbol: WBSCR28
  hgvsc: ENST00000426490.1:c.*755C>G
  variant of: http://identifiers.org/hgnc/23018
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35960
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8440
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

7-73280238-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280238
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280238
    reference: chr 7
allele count: 2
allele frequency: 1.766316347257794e-5
allele num: 113230
alternate allele: A
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7147
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36066
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12846
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8410
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 63982
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9202
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

7-73280238-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280238
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280238
    reference: chr 7
allele count: 1
allele frequency: 8.83158173628897e-6
allele num: 113230
alternate allele: C
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36066
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8410
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11370
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6592
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9202
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

7-73280242-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280242
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280242
    reference: chr 7
allele count: 1
allele frequency: 8.872484650601555e-6
allele num: 112708
alternate allele: G
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36059
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3188
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genotype quality: GenotypeQuality
  all individuals: 520
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 850
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8406
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 8.017960230917254e-5
  allele num: 12472
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11362
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9206
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

7-73280245-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73280245
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73280245
    reference: chr 7
allele count: 6
allele frequency: 5.33684379058225e-5
allele num: 112426
alternate allele: A
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36054
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6590
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8398
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 2.442598925256473e-4
  allele num: 12282
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.08695652173913e-4
  allele num: 9200
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

7-73442473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442473
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442473
    reference: chr 7
allele count: 3
allele frequency: 2.992876952852212e-5
allele num: 100238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-45G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-45G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-45G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.20G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-45G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-45G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.18G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-45G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-45G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-45G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-45G>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10006
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

7-73442478-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442478
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442478
    reference: chr 7
allele count: 3
allele frequency: 2.978436122473293e-5
allele num: 100724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-40A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-40A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.23A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.35A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-40A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-40A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-40A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-40A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-40A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.25A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-40A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-40A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.5A>G
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20358
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

7-73442480-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442480
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442480
    reference: chr 7
allele count: 2129
allele frequency: 2.112731963878138e-2
allele num: 100770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-38C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.27C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-38C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-38C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.7C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-38C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-38C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-38C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.37C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-38C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-38C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.25C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-38C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.75e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 1.75e1
  variant carriers: 432
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 7.5e0
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 21413
  bin: 2.25e1
  variant carriers: 385
genotype depth: GenotypeDepth
  all individuals: 12175
  bin: 1.25e1
  variant carriers: 283
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6315
  bin: 2.75e1
  variant carriers: 258
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
num of homozygotes: 54
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

7-73442481-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442481
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442481
    reference: chr 7
allele count: 1
allele frequency: 9.912178102016138e-6
allele num: 100886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.28G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-37G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-37G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.8G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.38G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-37G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-37G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.26G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22115
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

7-73442481-G-GAGGTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442481
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442487
    reference: chr 7
allele count: 1
allele frequency: 9.912178102016138e-6
allele num: 100886
alternate allele: GAGGTGC
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-36_-31dupAGGTGC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-36_-31dupAGGTGC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-36_-31dupAGGTGC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.39_44dupAGGTGC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-36_-31dupAGGTGC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.9_14dupAGGTGC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-36_-31dupAGGTGC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-36_-31dupAGGTGC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.27_32dupAGGTGC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-36_-31dupAGGTGC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-36_-31dupAGGTGC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.29_34dupAGGTGC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-36_-31dupAGGTGC
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22115
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD

7-73442483-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442483
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442483
    reference: chr 7
allele count: 2
allele frequency: 1.975425704239263e-5
allele num: 101244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.10G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.30G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-35G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.40G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-35G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-35G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-35G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-35G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-35G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-35G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-35G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-35G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.28G>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11090
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

7-73442486-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442486
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442486
    reference: chr 7
allele count: 1
allele frequency: 9.847947687701884e-6
allele num: 101544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-32G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-32G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.33G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-32G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-32G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-32G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.31G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-32G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-32G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.43G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.13G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-32G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-32G>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24477
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD

7-73442487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442487
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442487
    reference: chr 7
allele count: 2
allele frequency: 1.974099810486418e-5
allele num: 101312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.32C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-31C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.-31C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-31C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.14C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.34C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-31C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-31C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24767
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

7-73442488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442488
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442488
    reference: chr 7
allele count: 3
allele frequency: 2.945103274954842e-5
allele num: 101864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.45G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.-30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.35G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.15G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.-30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.33G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-30G>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9053
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25642
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/7-73442492-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442492
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442492
    reference: chr 7
allele count: 1
allele frequency: 9.75305270549682e-6
allele num: 102532
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.-26A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-26A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-26A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-26A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-26A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-26A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-26A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-26A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-26A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.49A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.19A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.39A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-26A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.-26A>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.37A>C
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7718
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-73442494-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442494
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442494
    reference: chr 7
allele count: 5
allele frequency: 4.88710780959828e-5
allele num: 102310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.-24C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-24C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-24C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-24C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.-24C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.51C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-24C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.21C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.-24C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.41C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.39C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27149
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8630
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

7-73442495-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442495
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442495
    reference: chr 7
allele count: 2
allele frequency: 1.943785717062551e-5
allele num: 102892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.-23G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-23G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-23G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-23G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.40G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-23G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-23G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-23G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-23G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.-23G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-23G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.22G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-23G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.-23G>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

7-73442495-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442495
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442495
    reference: chr 7
allele count: 3
allele frequency: 2.915678575593826e-5
allele num: 102892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-23G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.-23G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.-23G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-23G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-23G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.40G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-23G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.42G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-23G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-23G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-23G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.22G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.-23G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-23G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-23G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.52G>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

7-73442505-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442505
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442505
    reference: chr 7
allele count: 1
allele frequency: 9.551828219921294e-6
allele num: 104692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.3A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.32A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.50A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-13A>G
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

7-73442509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442509
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442509
    reference: chr 7
allele count: 4
allele frequency: 3.807928106317353e-5
allele num: 105044
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.7C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.56C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000462506
  gene symbol: ELN
  hgvsc: ENST00000462506.1:n.7C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-9C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-73442511-C-CCCCAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442511
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442517
    reference: chr 7
allele count: 7
allele frequency: 6.656270206534556e-5
allele num: 105164
alternate allele: CCCCAGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.12_13insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.41_42insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.9_10insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.61_62insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.71_72insAGACCC
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.-4_-3insAGACCC
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-73442511-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442511
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442511
    reference: chr 7
allele count: 1
allele frequency: 9.508957437906509e-6
allele num: 105164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.9C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.58C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.6C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-7C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.56C>G
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-73442514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442514
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442514
    reference: chr 7
allele count: 4
allele frequency: 3.793554750478936e-5
allele num: 105442
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.59C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.9C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.61C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.-4C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/7-73442522-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442522
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442522
    reference: chr 7
allele count: 2
allele frequency: 1.897137219935118e-5
allele num: 105422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000462506
  gene symbol: ELN
  hgvsc: ENST00000462506.1:n.20C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.5C>A
  hgvsp: ENSP00000369949.4:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.79C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.5C>A
  hgvsp: ENSP00000399499.1:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.5C>A
  hgvsp: ENSP00000404138.1:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.5C>A
  hgvsp: ENSP00000403961.1:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.20C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.5C>A
  hgvsp: ENSP00000369936.4:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.5C>A
  hgvsp: ENSP00000406949.1:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.69C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.17C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.67C>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.5C>A
  hgvsp: ENSP00000369958.4:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.5C>A
  hgvsp: ENSP00000411092.1:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.5C>A
  hgvsp: ENSP00000315607.7:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.5C>A
  hgvsp: ENSP00000252034.7:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.5C>A
  hgvsp: ENSP00000369926.4:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.5C>A
  hgvsp: ENSP00000403162.1:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.5C>A
  hgvsp: ENSP00000351807.4:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.5C>A
  hgvsp: ENSP00000369950.5:p.Ala2Glu
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala2Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

7-73442522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442522
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442522
    reference: chr 7
allele count: 3
allele frequency: 2.845705829902677e-5
allele num: 105422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.5C>T
  hgvsp: ENSP00000399499.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.5C>T
  hgvsp: ENSP00000369958.4:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.5C>T
  hgvsp: ENSP00000252034.7:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.5C>T
  hgvsp: ENSP00000406949.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.5C>T
  hgvsp: ENSP00000349540.5:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.69C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.5C>T
  hgvsp: ENSP00000389857.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.5C>T
  hgvsp: ENSP00000369949.4:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.5C>T
  hgvsp: ENSP00000351807.4:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.5C>T
  hgvsp: ENSP00000391129.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.5C>T
  hgvsp: ENSP00000369926.4:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.5C>T
  hgvsp: ENSP00000411092.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.5C>T
  hgvsp: ENSP00000392575.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.5C>T
  hgvsp: ENSP00000394549.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.5C>T
  hgvsp: ENSP00000404138.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.5C>T
  hgvsp: ENSP00000403961.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.5C>T
  hgvsp: ENSP00000403162.1:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.5C>T
  hgvsp: ENSP00000369936.4:p.Ala2Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.49C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala2Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

7-73442523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442523
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442523
    reference: chr 7
allele count: 4
allele frequency: 3.783292978208233e-5
allele num: 105728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.80G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.6G>A
  hgvsp: ENST00000431562.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.6G>A
  hgvsp: ENST00000458204.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.6G>A
  hgvsp: ENST00000380562.4:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.6G>A
  hgvsp: ENST00000320492.7:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.50G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.6G>A
  hgvsp: ENST00000358929.4:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.6G>A
  hgvsp: ENST00000438906.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.6G>A
  hgvsp: ENST00000252034.7:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.6G>A
  hgvsp: ENST00000414324.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.6G>A
  hgvsp: ENST00000442310.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.6G>A
  hgvsp: ENST00000380553.4:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.6G>A
  hgvsp: ENST00000445912.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.6G>A
  hgvsp: ENST00000417091.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.6G>A
  hgvsp: ENST00000357036.5:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.6G>A
  hgvsp: ENST00000438880.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.6G>A
  hgvsp: ENST00000380575.4:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.6G>A
  hgvsp: ENST00000428787.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000462506
  gene symbol: ELN
  hgvsc: ENST00000462506.1:n.21G>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala2Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

7-73442526-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442526
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442526
    reference: chr 7
allele count: 1
allele frequency: 9.466469764095574e-6
allele num: 105636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.9T>C
  hgvsp: ENST00000458204.1:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.9T>C
  hgvsp: ENST00000380584.4:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.9T>C
  hgvsp: ENST00000429192.1:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.9T>C
  hgvsp: ENST00000417091.1:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.71T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.9T>C
  hgvsp: ENST00000357036.5:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.9T>C
  hgvsp: ENST00000438906.1:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.53T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.21T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.9T>C
  hgvsp: ENST00000428787.1:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.9T>C
  hgvsp: ENST00000252034.7:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.9T>C
  hgvsp: ENST00000445912.1:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.9T>C
  hgvsp: ENST00000442310.1:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.9T>C
  hgvsp: ENST00000358929.4:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.9T>C
  hgvsp: ENST00000380562.4:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.9T>C
  hgvsp: ENST00000380575.4:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.9T>C
  hgvsp: ENST00000416107.1:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000462506
  gene symbol: ELN
  hgvsc: ENST00000462506.1:n.24T>C
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.9T>C
  hgvsp: ENST00000431562.1:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly3Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

7-73442531-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442531
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442531
    reference: chr 7
allele count: 1
allele frequency: 9.511128019783147e-6
allele num: 105140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.14C>T
  hgvsp: ENSP00000411092.1:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.14C>T
  hgvsp: ENSP00000406949.1:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.14C>T
  hgvsp: ENSP00000403961.1:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.14C>T
  hgvsp: ENSP00000389857.1:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.14C>T
  hgvsp: ENSP00000389206.1:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.14C>T
  hgvsp: ENSP00000399499.1:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.14C>T
  hgvsp: ENSP00000369936.4:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.29C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.14C>T
  hgvsp: ENSP00000369926.4:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.26C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.14C>T
  hgvsp: ENSP00000369949.4:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.14C>T
  hgvsp: ENSP00000403162.1:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.14C>T
  hgvsp: ENSP00000394549.1:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.14C>T
  hgvsp: ENSP00000349540.5:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.78C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.76C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.14C>T
  hgvsp: ENSP00000369958.4:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.14C>T
  hgvsp: ENSP00000369950.5:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.14C>T
  hgvsp: ENSP00000315607.7:p.Thr5Met
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr5Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

7-73442532-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442532
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442532
    reference: chr 7
allele count: 4
allele frequency: 3.794058504382138e-5
allele num: 105428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000462506
  gene symbol: ELN
  hgvsc: ENST00000462506.1:n.30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.15G>A
  hgvsp: ENST00000458204.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.15G>A
  hgvsp: ENST00000380576.5:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.15G>A
  hgvsp: ENST00000417091.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.15G>A
  hgvsp: ENST00000380562.4:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.15G>A
  hgvsp: ENST00000380575.4:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.27G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.15G>A
  hgvsp: ENST00000252034.7:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.89G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.15G>A
  hgvsp: ENST00000438906.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.15G>A
  hgvsp: ENST00000428787.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.15G>A
  hgvsp: ENST00000442310.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.15G>A
  hgvsp: ENST00000416107.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.15G>A
  hgvsp: ENST00000414324.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.15G>A
  hgvsp: ENST00000380553.4:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.15G>A
  hgvsp: ENST00000357036.5:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.15G>A
  hgvsp: ENST00000431562.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.15G>A
  hgvsp: ENST00000320492.7:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.15G>A
  hgvsp: ENST00000380584.4:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr5Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

7-73442534-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442534
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442534
    reference: chr 7
allele count: 1
allele frequency: 9.544716999140975e-6
allele num: 104770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.17C>T
  hgvsp: ENSP00000369950.5:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.17C>T
  hgvsp: ENSP00000403961.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.17C>T
  hgvsp: ENSP00000369949.4:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.17C>T
  hgvsp: ENSP00000369936.4:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.17C>T
  hgvsp: ENSP00000411092.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.17C>T
  hgvsp: ENSP00000369926.4:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.17C>T
  hgvsp: ENSP00000394549.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.79C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.61C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.17C>T
  hgvsp: ENSP00000404138.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.81C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.17C>T
  hgvsp: ENSP00000406949.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.17C>T
  hgvsp: ENSP00000252034.7:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.17C>T
  hgvsp: ENSP00000369958.4:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.32C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.17C>T
  hgvsp: ENSP00000313565.6:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.17C>T
  hgvsp: ENSP00000391129.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.17C>T
  hgvsp: ENSP00000349540.5:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.17C>T
  hgvsp: ENSP00000403162.1:p.Ala6Val
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala6Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

7-73442535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442535
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442535
    reference: chr 7
allele count: 1
allele frequency: 9.516739945564248e-6
allele num: 105078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.18G>A
  hgvsp: ENST00000380584.4:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000462506
  gene symbol: ELN
  hgvsc: ENST00000462506.1:n.33G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.18G>A
  hgvsp: ENST00000458204.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.18G>A
  hgvsp: ENST00000320492.7:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.18G>A
  hgvsp: ENST00000414324.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.18G>A
  hgvsp: ENST00000380575.4:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.18G>A
  hgvsp: ENST00000442310.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.18G>A
  hgvsp: ENST00000438880.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.18G>A
  hgvsp: ENST00000357036.5:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.80G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.18G>A
  hgvsp: ENST00000417091.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.18G>A
  hgvsp: ENST00000438906.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.33G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.18G>A
  hgvsp: ENST00000431562.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.30G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.18G>A
  hgvsp: ENST00000428787.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.18G>A
  hgvsp: ENST00000429192.1:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.18G>A
  hgvsp: ENST00000252034.7:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.18G>A
  hgvsp: ENST00000358929.4:c.18G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala6Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

7-73442537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442537
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442537
    reference: chr 7
allele count: 7
allele frequency: 6.717592414878508e-5
allele num: 104204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.20C>T
  hgvsp: ENSP00000394549.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.20C>T
  hgvsp: ENSP00000252034.7:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.64C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.94C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.84C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.20C>T
  hgvsp: ENSP00000369950.5:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.20C>T
  hgvsp: ENSP00000399499.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.20C>T
  hgvsp: ENSP00000315607.7:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.20C>T
  hgvsp: ENSP00000411092.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.20C>T
  hgvsp: ENSP00000404138.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.20C>T
  hgvsp: ENSP00000403961.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.20C>T
  hgvsp: ENSP00000389857.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.20C>T
  hgvsp: ENSP00000389206.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.20C>T
  hgvsp: ENSP00000403162.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.20C>T
  hgvsp: ENSP00000313565.6:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.20C>T
  hgvsp: ENSP00000369926.4:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.32C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.20C>T
  hgvsp: ENSP00000369958.4:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.20C>T
  hgvsp: ENSP00000406949.1:p.Ala7Val
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala7Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

7-73442538-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442538
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442538
    reference: chr 7
allele count: 1
allele frequency: 9.548362455838823e-6
allele num: 104730
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.21G>A
  hgvsp: ENST00000438880.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.21G>A
  hgvsp: ENST00000252034.7:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.83G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.85G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.21G>A
  hgvsp: ENST00000438906.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.21G>A
  hgvsp: ENST00000458204.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.95G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.21G>A
  hgvsp: ENST00000380562.4:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.36G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.21G>A
  hgvsp: ENST00000445912.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.21G>A
  hgvsp: ENST00000380575.4:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.33G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.21G>A
  hgvsp: ENST00000429192.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.21G>A
  hgvsp: ENST00000357036.5:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000462506
  gene symbol: ELN
  hgvsc: ENST00000462506.1:n.36G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.21G>A
  hgvsp: ENST00000380553.4:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.21G>A
  hgvsp: ENST00000416107.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.21G>A
  hgvsp: ENST00000380584.4:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.21G>A
  hgvsp: ENST00000442310.1:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.21G>A
  hgvsp: ENST00000380576.5:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala7Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

7-73442543-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442543
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442543
    reference: chr 7
allele count: 6
allele frequency: 5.734054549972286e-5
allele num: 104638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.26C>T
  hgvsp: ENSP00000389857.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.26C>T
  hgvsp: ENSP00000351807.4:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.100C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.26C>T
  hgvsp: ENSP00000369936.4:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.26C>T
  hgvsp: ENSP00000369958.4:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.41C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.26C>T
  hgvsp: ENSP00000369950.5:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.26C>T
  hgvsp: ENSP00000349540.5:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.26C>T
  hgvsp: ENSP00000406949.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.26C>T
  hgvsp: ENSP00000392575.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.26C>T
  hgvsp: ENSP00000403162.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.26C>T
  hgvsp: ENSP00000403961.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.26C>T
  hgvsp: ENSP00000369949.4:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.26C>T
  hgvsp: ENSP00000252034.7:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.90C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.26C>T
  hgvsp: ENSP00000313565.6:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.26C>T
  hgvsp: ENSP00000404138.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.26C>T
  hgvsp: ENSP00000394549.1:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.26C>T
  hgvsp: ENSP00000369926.4:p.Pro9Leu
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro9Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff

7-73442543-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442543
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442543
    reference: chr 7
allele count: 1
allele frequency: 9.556757583287142e-6
allele num: 104638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.26C>G
  hgvsp: ENSP00000389857.1:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.26C>G
  hgvsp: ENSP00000313565.6:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.26C>G
  hgvsp: ENSP00000369958.4:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.26C>G
  hgvsp: ENSP00000403162.1:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.26C>G
  hgvsp: ENSP00000411092.1:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.26C>G
  hgvsp: ENSP00000369949.4:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.26C>G
  hgvsp: ENSP00000406949.1:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.26C>G
  hgvsp: ENSP00000392575.1:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.26C>G
  hgvsp: ENSP00000391129.1:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.26C>G
  hgvsp: ENSP00000351807.4:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.26C>G
  hgvsp: ENSP00000399499.1:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.38C>G
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.26C>G
  hgvsp: ENSP00000349540.5:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.26C>G
  hgvsp: ENSP00000394549.1:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.26C>G
  hgvsp: ENSP00000252034.7:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.26C>G
  hgvsp: ENSP00000315607.7:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.26C>G
  hgvsp: ENSP00000389206.1:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.26C>G
  hgvsp: ENSP00000403961.1:p.Pro9Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.41C>G
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro9Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

7-73442544-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442544
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442544
    reference: chr 7
allele count: 3
allele frequency: 2.871417906162063e-5
allele num: 104478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.27G>A
  hgvsp: ENST00000417091.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000462506
  gene symbol: ELN
  hgvsc: ENST00000462506.1:n.42G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.27G>A
  hgvsp: ENST00000442310.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.27G>A
  hgvsp: ENST00000252034.7:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.27G>A
  hgvsp: ENST00000438880.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.27G>A
  hgvsp: ENST00000380562.4:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.27G>A
  hgvsp: ENST00000431562.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.27G>A
  hgvsp: ENST00000320492.7:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.27G>A
  hgvsp: ENST00000380553.4:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.27G>A
  hgvsp: ENST00000458204.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.27G>A
  hgvsp: ENST00000414324.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.27G>A
  hgvsp: ENST00000357036.5:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.27G>A
  hgvsp: ENST00000380584.4:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.27G>A
  hgvsp: ENST00000445912.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.27G>A
  hgvsp: ENST00000438906.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.71G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.27G>A
  hgvsp: ENST00000380576.5:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.27G>A
  hgvsp: ENST00000416107.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.42G>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro9Pro
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

7-73442545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442545
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442545
    reference: chr 7
allele count: 1
allele frequency: 9.562423500611994e-6
allele num: 104576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.28C>T
  hgvsp: ENSP00000313565.6:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.28C>T
  hgvsp: ENSP00000252034.7:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.28C>T
  hgvsp: ENSP00000394549.1:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.28C>T
  hgvsp: ENSP00000411092.1:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.28C>T
  hgvsp: ENSP00000403162.1:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.28C>T
  hgvsp: ENSP00000403961.1:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.28C>T
  hgvsp: ENSP00000392575.1:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.28C>T
  hgvsp: ENSP00000349540.5:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.28C>T
  hgvsp: ENSP00000391129.1:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.28C>T
  hgvsp: ENSP00000315607.7:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.28C>T
  hgvsp: ENSP00000369949.4:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.28C>T
  hgvsp: ENSP00000406949.1:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.28C>T
  hgvsp: ENSP00000369958.4:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.28C>T
  hgvsp: ENSP00000369936.4:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.40C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.28C>T
  hgvsp: ENSP00000399499.1:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.102C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.28C>T
  hgvsp: ENSP00000404138.1:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.28C>T
  hgvsp: ENSP00000369950.5:p.Arg10Trp
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg10Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

7-73442548-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442548
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442548
    reference: chr 7
allele count: 1
allele frequency: 9.565899481528247e-6
allele num: 104538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.31C>T
  hgvsp: ENSP00000315607.7:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.31C>T
  hgvsp: ENSP00000403162.1:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.31C>T
  hgvsp: ENSP00000391129.1:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.31C>T
  hgvsp: ENSP00000404138.1:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.31C>T
  hgvsp: ENSP00000406949.1:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.31C>T
  hgvsp: ENSP00000389857.1:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.31C>T
  hgvsp: ENSP00000394549.1:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.31C>T
  hgvsp: ENSP00000369958.4:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.31C>T
  hgvsp: ENSP00000369936.4:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.31C>T
  hgvsp: ENSP00000403961.1:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.93C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.105C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.31C>T
  hgvsp: ENSP00000389206.1:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000462506
  gene symbol: ELN
  hgvsc: ENST00000462506.1:n.46C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.31C>T
  hgvsp: ENSP00000313565.6:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.31C>T
  hgvsp: ENSP00000349540.5:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.31C>T
  hgvsp: ENSP00000369926.4:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.31C>T
  hgvsp: ENSP00000411092.1:p.Pro11Ser
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro11Ser
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: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-73442549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442549
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442549
    reference: chr 7
allele count: 1
allele frequency: 9.570110630478889e-6
allele num: 104492
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.32C>T
  hgvsp: ENSP00000394549.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.32C>T
  hgvsp: ENSP00000349540.5:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.32C>T
  hgvsp: ENSP00000392575.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.32C>T
  hgvsp: ENSP00000411092.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.32C>T
  hgvsp: ENSP00000369958.4:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.32C>T
  hgvsp: ENSP00000315607.7:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.32C>T
  hgvsp: ENSP00000313565.6:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.32C>T
  hgvsp: ENSP00000406949.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.47C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.32C>T
  hgvsp: ENSP00000399499.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.32C>T
  hgvsp: ENSP00000403162.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.32C>T
  hgvsp: ENSP00000403961.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.32C>T
  hgvsp: ENSP00000369926.4:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.32C>T
  hgvsp: ENSP00000252034.7:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.96C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.44C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.32C>T
  hgvsp: ENSP00000351807.4:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.32C>T
  hgvsp: ENSP00000389857.1:p.Pro11Leu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.94C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro11Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

7-73442550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442550
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442550
    reference: chr 7
allele count: 1
allele frequency: 9.572492485593399e-6
allele num: 104466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.33C>T
  hgvsp: ENST00000417091.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.107C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.33C>T
  hgvsp: ENST00000380575.4:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.33C>T
  hgvsp: ENST00000431562.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.33C>T
  hgvsp: ENST00000358929.4:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.33C>T
  hgvsp: ENST00000445912.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.33C>T
  hgvsp: ENST00000442310.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.33C>T
  hgvsp: ENST00000357036.5:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.33C>T
  hgvsp: ENST00000380562.4:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.33C>T
  hgvsp: ENST00000414324.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.33C>T
  hgvsp: ENST00000380584.4:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.45C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.33C>T
  hgvsp: ENST00000438880.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.33C>T
  hgvsp: ENST00000416107.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.33C>T
  hgvsp: ENST00000428787.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.33C>T
  hgvsp: ENST00000438906.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.33C>T
  hgvsp: ENST00000458204.1:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.33C>T
  hgvsp: ENST00000380576.5:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.77C>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro11Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

7-73442551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442551
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442551
    reference: chr 7
allele count: 8
allele frequency: 7.664156655362036e-5
allele num: 104382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.34G>A
  hgvsp: ENSP00000394549.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.34G>A
  hgvsp: ENSP00000351807.4:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.34G>A
  hgvsp: ENSP00000411092.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.34G>A
  hgvsp: ENSP00000399499.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.34G>A
  hgvsp: ENSP00000369950.5:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000462506
  gene symbol: ELN
  hgvsc: ENST00000462506.1:n.49G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.34G>A
  hgvsp: ENSP00000392575.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.34G>A
  hgvsp: ENSP00000315607.7:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.34G>A
  hgvsp: ENSP00000369949.4:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.34G>A
  hgvsp: ENSP00000389857.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.34G>A
  hgvsp: ENSP00000349540.5:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.34G>A
  hgvsp: ENSP00000389206.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.34G>A
  hgvsp: ENSP00000406949.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.49G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.96G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.34G>A
  hgvsp: ENSP00000404138.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.34G>A
  hgvsp: ENSP00000369958.4:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.34G>A
  hgvsp: ENSP00000369936.4:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.34G>A
  hgvsp: ENSP00000403961.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly12Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

7-73442552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442552
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442552
    reference: chr 7
allele count: 1
allele frequency: 9.582031774017363e-6
allele num: 104362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.35G>A
  hgvsp: ENSP00000351807.4:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.97G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.35G>A
  hgvsp: ENSP00000392575.1:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000462506
  gene symbol: ELN
  hgvsc: ENST00000462506.1:n.50G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.35G>A
  hgvsp: ENSP00000369949.4:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.99G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000391129
  ensembl transcript: ENST00000429192
  gene symbol: ELN
  hgvsc: ENST00000429192.1:c.35G>A
  hgvsp: ENSP00000391129.1:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.47G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.35G>A
  hgvsp: ENSP00000404138.1:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.35G>A
  hgvsp: ENSP00000252034.7:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.35G>A
  hgvsp: ENSP00000369936.4:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.35G>A
  hgvsp: ENSP00000369950.5:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.35G>A
  hgvsp: ENSP00000403961.1:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.35G>A
  hgvsp: ENSP00000349540.5:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.35G>A
  hgvsp: ENSP00000399499.1:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.79G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000315607
  ensembl transcript: ENST00000320492
  gene symbol: ELN
  hgvsc: ENST00000320492.7:c.35G>A
  hgvsp: ENSP00000315607.7:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.35G>A
  hgvsp: ENSP00000406949.1:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.35G>A
  hgvsp: ENSP00000403162.1:p.Gly12Glu
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly12Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

7-73442552-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442552
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442552
    reference: chr 7
allele count: 3
allele frequency: 2.874609532205209e-5
allele num: 104362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.35G>T
  hgvsp: ENSP00000252034.7:p.Gly12Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.35G>T
  hgvsp: ENSP00000389206.1:p.Gly12Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.35G>T
  hgvsp: ENSP00000313565.6:p.Gly12Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.35G>T
  hgvsp: ENSP00000389857.1:p.Gly12Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.35G>T
  hgvsp: ENSP00000369950.5:p.Gly12Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.35G>T
  hgvsp: ENSP00000369936.4:p.Gly12Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.35G>T
  hgvsp: ENSP00000404138.1:p.Gly12Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.109G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.35G>T
  hgvsp: ENSP00000403162.1:p.Gly12Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.35G>T
  hgvsp: ENSP00000406949.1:p.Gly12Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.50G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.35G>T
  hgvsp: ENSP00000349540.5:p.Gly12Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.35G>T
  hgvsp: ENSP00000369949.4:p.Gly12Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.35G>T
  hgvsp: ENSP00000369958.4:p.Gly12Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.35G>T
  hgvsp: ENSP00000394549.1:p.Gly12Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.35G>T
  hgvsp: ENSP00000403961.1:p.Gly12Val
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.79G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.47G>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000462506
  gene symbol: ELN
  hgvsc: ENST00000462506.1:n.50G>T
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly12Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-73442554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442554
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442554
    reference: chr 7
allele count: 1
allele frequency: 9.586440937937382e-6
allele num: 104314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.37G>A
  hgvsp: ENSP00000392575.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.37G>A
  hgvsp: ENSP00000399499.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.81G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.37G>A
  hgvsp: ENSP00000411092.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.37G>A
  hgvsp: ENSP00000403961.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000494160
  gene symbol: ELN
  hgvsc: ENST00000494160.1:n.111G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.37G>A
  hgvsp: ENSP00000369936.4:p.Val13Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.37G>A
  hgvsp: ENSP00000369926.4:p.Val13Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.37G>A
  hgvsp: ENSP00000313565.6:p.Val13Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.52G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.37G>A
  hgvsp: ENSP00000369958.4:p.Val13Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.37G>A
  hgvsp: ENSP00000349540.5:p.Val13Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.37G>A
  hgvsp: ENSP00000369950.5:p.Val13Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.37G>A
  hgvsp: ENSP00000252034.7:p.Val13Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.37G>A
  hgvsp: ENSP00000404138.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.99G>A
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.37G>A
  hgvsp: ENSP00000369949.4:p.Val13Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.37G>A
  hgvsp: ENSP00000406949.1:p.Val13Ile
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000462506
  gene symbol: ELN
  hgvsc: ENST00000462506.1:n.52G>A
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val13Ile
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

7-73442566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442566
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442566
    reference: chr 7
allele count: 2
allele frequency: 1.936520846646914e-5
allele num: 103278
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.49C>T
  hgvsp: ENST00000252034.7:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.49C>T
  hgvsp: ENST00000380553.4:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.49C>T
  hgvsp: ENST00000358929.4:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.49C>T
  hgvsp: ENST00000438906.1:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.49C>T
  hgvsp: ENST00000380562.4:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.49C>T
  hgvsp: ENST00000320399.6:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.49C>T
  hgvsp: ENST00000438880.1:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.61C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.93C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.49C>T
  hgvsp: ENST00000380575.4:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.49C>T
  hgvsp: ENST00000428787.1:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.49C>T
  hgvsp: ENST00000380584.4:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.49C>T
  hgvsp: ENST00000431562.1:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.49C>T
  hgvsp: ENST00000417091.1:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.64C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.49C>T
  hgvsp: ENST00000357036.5:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.49C>T
  hgvsp: ENST00000442310.1:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.49C>T
  hgvsp: ENST00000380576.5:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.49C>T
  hgvsp: ENST00000445912.1:c.49C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu17Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

7-73442578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442578
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442578
    reference: chr 7
allele count: 4
allele frequency: 4.040404040404041e-5
allele num: 99000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.61C>T
  hgvsp: ENSP00000399499.1:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.61C>T
  hgvsp: ENSP00000369950.5:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000351807
  ensembl transcript: ENST00000358929
  gene symbol: ELN
  hgvsc: ENST00000358929.4:c.61C>T
  hgvsp: ENSP00000351807.4:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.61C>T
  hgvsp: ENSP00000392575.1:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.61C>T
  hgvsp: ENSP00000252034.7:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000404138
  ensembl transcript: ENST00000416107
  gene symbol: ELN
  hgvsc: ENST00000416107.1:c.61C>T
  hgvsp: ENSP00000404138.1:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.61C>T
  hgvsp: ENSP00000411092.1:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.61C>T
  hgvsp: ENSP00000403961.1:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.61C>T
  hgvsp: ENSP00000389857.1:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.61C>T
  hgvsp: ENSP00000369936.4:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000313565
  ensembl transcript: ENST00000320399
  gene symbol: ELN
  hgvsc: ENST00000320399.6:c.61C>T
  hgvsp: ENSP00000313565.6:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.61C>T
  hgvsp: ENSP00000349540.5:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.61C>T
  hgvsp: ENSP00000406949.1:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.61C>T
  hgvsp: ENSP00000394549.1:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.61C>T
  hgvsp: ENSP00000403162.1:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000480728
  gene symbol: ELN
  hgvsc: ENST00000480728.1:n.105C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.61C>T
  hgvsp: ENSP00000369949.4:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.61C>T
  hgvsp: ENSP00000389206.1:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369926
  ensembl transcript: ENST00000380553
  gene symbol: ELN
  hgvsc: ENST00000380553.4:c.61C>T
  hgvsp: ENSP00000369926.4:p.Leu21Phe
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu21Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

7-73442581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 73442581
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 73442581
    reference: chr 7
allele count: 1
allele frequency: 1.011081452721831e-5
allele num: 98904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000392575
  ensembl transcript: ENST00000414324
  gene symbol: ELN
  hgvsc: ENST00000414324.1:c.64C>T
  hgvsp: ENSP00000392575.1:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369949
  ensembl transcript: ENST00000380575
  gene symbol: ELN
  hgvsc: ENST00000380575.4:c.64C>T
  hgvsp: ENSP00000369949.4:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000411092
  ensembl transcript: ENST00000417091
  gene symbol: ELN
  hgvsc: ENST00000417091.1:c.64C>T
  hgvsp: ENSP00000411092.1:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403961
  ensembl transcript: ENST00000442310
  gene symbol: ELN
  hgvsc: ENST00000442310.1:c.64C>T
  hgvsp: ENSP00000403961.1:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000473323
  gene symbol: ELN
  hgvsc: ENST00000473323.1:n.76C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000394549
  ensembl transcript: ENST00000431562
  gene symbol: ELN
  hgvsc: ENST00000431562.1:c.64C>T
  hgvsp: ENSP00000394549.1:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000406949
  ensembl transcript: ENST00000438906
  gene symbol: ELN
  hgvsc: ENST00000438906.1:c.64C>T
  hgvsp: ENSP00000406949.1:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000403162
  ensembl transcript: ENST00000458204
  gene symbol: ELN
  hgvsc: ENST00000458204.1:c.64C>T
  hgvsp: ENSP00000403162.1:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000399499
  ensembl transcript: ENST00000428787
  gene symbol: ELN
  hgvsc: ENST00000428787.1:c.64C>T
  hgvsp: ENSP00000399499.1:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369958
  ensembl transcript: ENST00000380584
  gene symbol: ELN
  hgvsc: ENST00000380584.4:c.64C>T
  hgvsp: ENSP00000369958.4:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000479432
  gene symbol: ELN
  hgvsc: ENST00000479432.1:n.79C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369936
  ensembl transcript: ENST00000380562
  gene symbol: ELN
  hgvsc: ENST00000380562.4:c.64C>T
  hgvsp: ENSP00000369936.4:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000492003
  gene symbol: ELN
  hgvsc: ENST00000492003.1:n.128C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000369950
  ensembl transcript: ENST00000380576
  gene symbol: ELN
  hgvsc: ENST00000380576.5:c.64C>T
  hgvsp: ENSP00000369950.5:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389857
  ensembl transcript: ENST00000445912
  gene symbol: ELN
  hgvsc: ENST00000445912.1:c.64C>T
  hgvsp: ENSP00000389857.1:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000049540
  ensembl transcript: ENST00000468517
  gene symbol: ELN
  hgvsc: ENST00000468517.1:n.126C>T
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000252034
  ensembl transcript: ENST00000252034
  gene symbol: ELN
  hgvsc: ENST00000252034.7:c.64C>T
  hgvsp: ENSP00000252034.7:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000349540
  ensembl transcript: ENST00000357036
  gene symbol: ELN
  hgvsc: ENST00000357036.5:c.64C>T
  hgvsp: ENSP00000349540.5:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000049540
  ensembl protein: ENSP00000389206
  ensembl transcript: ENST00000438880
  gene symbol: ELN
  hgvsc: ENST00000438880.1:c.64C>T
  hgvsp: ENSP00000389206.1:p.His22Tyr
  variant of: http://identifiers.org/hgnc/3327
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
hgvs: p.His22Tyr
num of homozygotes: 0
reference allele: C

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

DP
type: SiteQuality
SIO_000300: 3.074544e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

FS
type: SiteQuality
SIO_000300: 1.092e0

QD
type: SiteQuality
SIO_000300: 1.343e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508477644361311e-5
allele num: 66292
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.070644e6

VQSLOD
type: SiteQuality
SIO_000300: -2.215e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

FS
type: SiteQuality
SIO_000300: 1.3942e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.036484245439469e-4
allele num: 9648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.615e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.864e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.312e0

DP
type: SiteQuality
SIO_000300: 3.070241e6

QD
type: SiteQuality
SIO_000300: 1.189e1

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.510893542441e-4
allele num: 66186
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.326183259501049e-4
allele num: 8578
num of homozygotes: 0

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

African
type: Population
allele count: 8
allele frequency: 8.340283569641367e-4
allele num: 9592
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.484304932735426e-3
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 946
allele frequency: 8.206106870229007e-2
allele num: 11528
num of homozygotes: 40

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.73e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

DP
type: SiteQuality
SIO_000300: 3.081589e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.31e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 5.77e0

QD
type: SiteQuality
SIO_000300: 1.34e1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0218783996132e-5
allele num: 66184
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

DP
type: SiteQuality
SIO_000300: 2.921257e6

FS
type: SiteQuality
SIO_000300: 5.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.832944470368642e-4
allele num: 8572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66134
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.217e1

DP
type: SiteQuality
SIO_000300: 2.918227e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.324e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.627e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

East Asian
type: Population
allele count: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.512401693889897e-4
allele num: 66120
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.195274932051014e-3
allele num: 9566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

QD
type: SiteQuality
SIO_000300: 1.349e1

FS
type: SiteQuality
SIO_000300: 1.126e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 2.917551e6

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.185e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.757e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 2.910547e6

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517634917744187e-5
allele num: 65892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.042e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.527e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

DP
type: SiteQuality
SIO_000300: 2.905927e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9504
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.105006105006105e-5
allele num: 16380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.056e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.843e0

VQSLOD
type: SiteQuality
SIO_000300: -8.743e-1

DP
type: SiteQuality
SIO_000300: 2.905522e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.47e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523554147114388e-5
allele num: 65636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9462
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.949e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.084e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.064e0

FS
type: SiteQuality
SIO_000300: 1.168e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

DP
type: SiteQuality
SIO_000300: 2.896381e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530081400330498e-5
allele num: 65356
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

QD
type: SiteQuality
SIO_000300: 1.136e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 7.115e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 2.880826e6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15484
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.152073732718894e-3
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 300
allele frequency: 3.196249733645855e-2
allele num: 9386
num of homozygotes: 5

Latino
type: Population
allele count: 28
allele frequency: 2.450551374059163e-3
allele num: 11426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.148293641050823e-4
allele num: 65168
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.47e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

DP
type: SiteQuality
SIO_000300: 2.865699e6

VQSLOD
type: SiteQuality
SIO_000300: 6.18e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

QD
type: SiteQuality
SIO_000300: 1.567e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64852
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.739452756436177e-5
allele num: 14838
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

FS
type: SiteQuality
SIO_000300: 1.676e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.522e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.404e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.143e0

DP
type: SiteQuality
SIO_000300: 2.813691e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.06458481192335e-3
allele num: 8454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64726
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.412e0

DP
type: SiteQuality
SIO_000300: 2.801228e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.453e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

FS
type: SiteQuality
SIO_000300: 4.369e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547556408431087e-5
allele num: 64618
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.105e0

QD
type: SiteQuality
SIO_000300: 1.736e1

FS
type: SiteQuality
SIO_000300: 9.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.095e0

DP
type: SiteQuality
SIO_000300: 2.793031e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547700117625209e-5
allele num: 64612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.4e-1

QD
type: SiteQuality
SIO_000300: 1.097e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.483e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

FS
type: SiteQuality
SIO_000300: 1.172e0

DP
type: SiteQuality
SIO_000300: 2.790408e6

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

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

South Asian
type: Population
allele count: 1
allele frequency: 7.100255609201931e-5
allele num: 14084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64530
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9294
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.716e0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e0

FS
type: SiteQuality
SIO_000300: 1.592e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.236e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.884e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.65e1

DP
type: SiteQuality
SIO_000300: 2.782477e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

Latino
type: Population
allele count: 2
allele frequency: 1.759014951627089e-4
allele num: 11370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.075e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.397e0

DP
type: SiteQuality
SIO_000300: 2.760484e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

South Asian
type: Population
allele count: 1
allele frequency: 7.784524365561264e-5
allele num: 12846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63982
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

DP
type: SiteQuality
SIO_000300: 2.760484e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 2.075e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.397e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63860
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.491e-1

DP
type: SiteQuality
SIO_000300: 2.756217e6

QD
type: SiteQuality
SIO_000300: 1.738e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.135779241141423e-5
allele num: 63780
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

QD
type: SiteQuality
SIO_000300: 1.433e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.07e0

DP
type: SiteQuality
SIO_000300: 2.753377e6

GenotypeDepth
all individuals: 372
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7379
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4799
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4920
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.573340195573855e-4
allele num: 7772
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.019514249613927e-5
allele num: 14246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55466
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.105347e6

QD
type: SiteQuality
SIO_000300: 1.027e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

FS
type: SiteQuality
SIO_000300: 2.281e0

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeDepth
all individuals: 642
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4618
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2953
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7945
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3252
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 21571
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4806
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2280
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3083
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.379621991894703e-5
allele num: 55766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4358
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

FS
type: SiteQuality
SIO_000300: 1.482e0

QD
type: SiteQuality
SIO_000300: 1.338e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.136972e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 5

GenotypeDepth
all individuals: 1955
bin: 3.25e1
variant carriers: 189

GenotypeDepth
all individuals: 409
bin: 5.25e1
variant carriers: 65

GenotypeQuality
all individuals: 2331
bin: 4.75e1
variant carriers: 18

GenotypeQuality
all individuals: 782
bin: 7.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1977
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 4909
bin: 9.75e1
variant carriers: 1984

GenotypeQuality
all individuals: 647
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2939
bin: 6.75e1
variant carriers: 10

GenotypeQuality
all individuals: 427
bin: 5.75e1
variant carriers: 16

GenotypeQuality
all individuals: 528
bin: 8.25e1
variant carriers: 17

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 24

GenotypeQuality
all individuals: 2500
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 778
bin: 7.25e1
variant carriers: 14

GenotypeQuality
all individuals: 22194
bin: 6.25e1
variant carriers: 13

GenotypeQuality
all individuals: 257
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1416
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 478
bin: 9.25e1
variant carriers: 24

GenotypeQuality
all individuals: 4334
bin: 3.25e1
variant carriers: 8

GenotypeQuality
all individuals: 7802
bin: 2.25e1
variant carriers: 10

GenotypeQuality
all individuals: 873
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 4333
bin: 3.75e1
variant carriers: 6

Other
type: Population
allele count: 13
allele frequency: 1.884057971014493e-2
allele num: 690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 580
allele frequency: 1.040881518969168e-2
allele num: 55722
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.380579843534284e-3
allele num: 4346
num of homozygotes: 0

Latino
type: Population
allele count: 121
allele frequency: 1.208549740311626e-2
allele num: 10012
num of homozygotes: 2

African
type: Population
allele count: 23
allele frequency: 2.947962061009998e-3
allele num: 7802
num of homozygotes: 0

South Asian
type: Population
allele count: 1097
allele frequency: 7.627590043109442e-2
allele num: 14382
num of homozygotes: 42

East Asian
type: Population
allele count: 289
allele frequency: 3.697543500511771e-2
allele num: 7816
num of homozygotes: 7

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.34e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.03e0

QD
type: SiteQuality
SIO_000300: 1.307e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.161019e6

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 709
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22879
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4229
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2526
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4328
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7953
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1097
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14410
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.278772378516624e-4
allele num: 7820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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FS
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VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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South Asian
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European (Non-Finnish)
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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East Asian
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Other
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African
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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MQ
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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Other
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DP
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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QD
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VQSLOD
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DP
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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South Asian
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African
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European (Non-Finnish)
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MQ
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FS
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MQRankSum
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VQSLOD
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DP
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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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MQ
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FS
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VQSLOD
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QD
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MQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
all individuals: 352
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 931
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3496
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1303
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29583
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8044
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3312
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.25022502250225e-4
allele num: 4444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.535817834665158e-5
allele num: 56564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.813542688910697e-5
allele num: 10190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.892748828232699e-5
allele num: 14508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.249614e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.266e0

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 1223
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6868
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 27852
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3317
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3652
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31255
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56870
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.482005460412013e-4
allele num: 8058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14586
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-1

QD
type: SiteQuality
SIO_000300: 9.58e0

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.53e-1

DP
type: SiteQuality
SIO_000300: 1.258498e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

GenotypeDepth
all individuals: 6868
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8849
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 27852
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7489
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2243
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 408
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 932
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31255
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1898
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3652
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3317
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 904
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56870
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.855889208830385e-5
allele num: 14586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.518257365902795e-4
allele num: 7942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4480
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

DP
type: SiteQuality
SIO_000300: 1.258498e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-1

FS
type: SiteQuality
SIO_000300: 8.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.52A>G
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.62A>G
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.-13A>G
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.3A>G
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 4688
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1289
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30233
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6796
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1213
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1342
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 655
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 931
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9993
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2348
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 408
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34660
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3312
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1385
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7617
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3958
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.727593117269021e-5
allele num: 57884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 1.302647e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.788e1

VQSLOD
type: SiteQuality
SIO_000300: -1.438e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.538e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000468517
gene symbol: ELN
hgvsc: ENST00000468517.1:n.54C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369958
ensembl transcript: ENST00000380584
gene symbol: ELN
hgvsc: ENST00000380584.4:c.-9C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000399499
ensembl transcript: ENST00000428787
gene symbol: ELN
hgvsc: ENST00000428787.1:c.-9C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.-9C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.66C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.36C>T
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 1276
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4239
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 936
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2405
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1203
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1217
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30738
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 408
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6612
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10200
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 655
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7522
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 381
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.41721053903795e-4
allele num: 8274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4592
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.484472049689441e-4
allele num: 8050
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.292e1

VQSLOD
type: SiteQuality
SIO_000300: -2.036e0

DP
type: SiteQuality
SIO_000300: 1.312498e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

FS
type: SiteQuality
SIO_000300: 4.239e0

MQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000468517
gene symbol: ELN
hgvsc: ENST00000468517.1:n.59_60insAGACCC
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000399499
ensembl transcript: ENST00000428787
gene symbol: ELN
hgvsc: ENST00000428787.1:c.-4_-3insAGACCC
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.-4_-3insAGACCC
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.12_13insAGACCC
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369936
ensembl transcript: ENST00000380562
gene symbol: ELN
hgvsc: ENST00000380562.4:c.-4_-3insAGACCC
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369949
ensembl transcript: ENST00000380575
gene symbol: ELN
hgvsc: ENST00000380575.4:c.-4_-3insAGACCC
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 6501
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10386
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 938
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1277
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 655
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4050
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1228
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1186
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2418
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30839
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 652
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3986
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7435
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3319
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 342
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35465
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10536
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.676251859196827e-4
allele num: 8068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14810
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 2.0183e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 1.317604e6

VQSLOD
type: SiteQuality
SIO_000300: -1.081e0

MQ
type: SiteQuality
SIO_000300: 5.287e1

MQRankSum
type: SiteQuality
SIO_000300: -3.542e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.38C>G
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000399499
ensembl transcript: ENST00000428787
gene symbol: ELN
hgvsc: ENST00000428787.1:c.-7C>G
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.-7C>G
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.68C>G
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389206
ensembl transcript: ENST00000438880
gene symbol: ELN
hgvsc: ENST00000438880.1:c.-7C>G
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.9C>G
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1186
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1277
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 655
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30839
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 938
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4050
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6501
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1228
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10386
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2418
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7435
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35465
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3319
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3986
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.719158300096273e-5
allele num: 58168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.542e0

QD
type: SiteQuality
SIO_000300: 5.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 2.0183e1

DP
type: SiteQuality
SIO_000300: 1.317604e6

MQ
type: SiteQuality
SIO_000300: 5.287e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: -1.081e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000479432
gene symbol: ELN
hgvsc: ENST00000479432.1:n.12C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.12C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000351807
ensembl transcript: ENST00000358929
gene symbol: ELN
hgvsc: ENST00000358929.4:c.-4C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.41C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.71C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000394549
ensembl transcript: ENST00000431562
gene symbol: ELN
hgvsc: ENST00000431562.1:c.-4C>T
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10805
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3817
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1279
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2514
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 30708
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 940
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6327
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1170
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1233
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 655
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1367
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7341
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1176
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4016
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.346801346801347e-4
allele num: 14850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.715442412598209e-5
allele num: 58294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4626
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.237011380504701e-4
allele num: 8084
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e-1

FS
type: SiteQuality
SIO_000300: 5.295e0

VQSLOD
type: SiteQuality
SIO_000300: -3.146e0

QD
type: SiteQuality
SIO_000300: 3.309e1

DP
type: SiteQuality
SIO_000300: 1.325713e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.49C>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.5C>A
hgvsp: ENSP00000391129.1:p.Ala2Glu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389206
ensembl transcript: ENST00000438880
gene symbol: ELN
hgvsc: ENST00000438880.1:c.5C>A
hgvsp: ENSP00000389206.1:p.Ala2Glu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389857
ensembl transcript: ENST00000445912
gene symbol: ELN
hgvsc: ENST00000445912.1:c.5C>A
hgvsp: ENSP00000389857.1:p.Ala2Glu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000392575
ensembl transcript: ENST00000414324
gene symbol: ELN
hgvsc: ENST00000414324.1:c.5C>A
hgvsp: ENSP00000392575.1:p.Ala2Glu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000394549
ensembl transcript: ENST00000431562
gene symbol: ELN
hgvsc: ENST00000431562.1:c.5C>A
hgvsp: ENSP00000394549.1:p.Ala2Glu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000349540
ensembl transcript: ENST00000357036
gene symbol: ELN
hgvsc: ENST00000357036.5:c.5C>A
hgvsp: ENSP00000349540.5:p.Ala2Glu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000313565
ensembl transcript: ENST00000320399
gene symbol: ELN
hgvsc: ENST00000320399.6:c.5C>A
hgvsp: ENSP00000313565.6:p.Ala2Glu
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 2682
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30015
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 661
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6009
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1377
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1274
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11371
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 946
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3614
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1439
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3973
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6960
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34941
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.433830094086945e-5
allele num: 58244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.334595e6

QD
type: SiteQuality
SIO_000300: 7.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.288e0

VQSLOD
type: SiteQuality
SIO_000300: -2.93e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.20C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369950
ensembl transcript: ENST00000380576
gene symbol: ELN
hgvsc: ENST00000380576.5:c.5C>T
hgvsp: ENSP00000369950.5:p.Ala2Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000313565
ensembl transcript: ENST00000320399
gene symbol: ELN
hgvsc: ENST00000320399.6:c.5C>T
hgvsp: ENSP00000313565.6:p.Ala2Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000468517
gene symbol: ELN
hgvsc: ENST00000468517.1:n.67C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389206
ensembl transcript: ENST00000438880
gene symbol: ELN
hgvsc: ENST00000438880.1:c.5C>T
hgvsp: ENSP00000389206.1:p.Ala2Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000315607
ensembl transcript: ENST00000320492
gene symbol: ELN
hgvsc: ENST00000320492.7:c.5C>T
hgvsp: ENSP00000315607.7:p.Ala2Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000479432
gene symbol: ELN
hgvsc: ENST00000479432.1:n.20C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000473323
gene symbol: ELN
hgvsc: ENST00000473323.1:n.17C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.79C>T
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 1439
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30015
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11371
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3614
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1377
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1274
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 946
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 661
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2682
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6009
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 527
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 855
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34941
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1086
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6960
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3973
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.167316861725184e-4
allele num: 4614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.220107369448512e-4
allele num: 8196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.716915047043472e-5
allele num: 58244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14934
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.93e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

FS
type: SiteQuality
SIO_000300: 2.288e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

QD
type: SiteQuality
SIO_000300: 7.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 1.334595e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000404138
ensembl transcript: ENST00000416107
gene symbol: ELN
hgvsc: ENST00000416107.1:c.6G>A
hgvsp: ENST00000416107.1:c.6G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000473323
gene symbol: ELN
hgvsc: ENST00000473323.1:n.18G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000313565
ensembl transcript: ENST00000320399
gene symbol: ELN
hgvsc: ENST00000320399.6:c.6G>A
hgvsp: ENST00000320399.6:c.6G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369958
ensembl transcript: ENST00000380584
gene symbol: ELN
hgvsc: ENST00000380584.4:c.6G>A
hgvsp: ENST00000380584.4:c.6G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.70G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369950
ensembl transcript: ENST00000380576
gene symbol: ELN
hgvsc: ENST00000380576.5:c.6G>A
hgvsp: ENST00000380576.5:c.6G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000479432
gene symbol: ELN
hgvsc: ENST00000479432.1:n.21G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000468517
gene symbol: ELN
hgvsc: ENST00000468517.1:n.68G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.6G>A
hgvsp: ENST00000429192.1:c.6G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 657
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1382
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5996
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11469
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1241
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1383
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2564
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 30199
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3561
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 939
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4049
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3317
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1084
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7046
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35814
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.135227661759671e-5
allele num: 58420
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.232437761893024e-4
allele num: 8114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

QD
type: SiteQuality
SIO_000300: 1.039e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

FS
type: SiteQuality
SIO_000300: 2.051e0

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

DP
type: SiteQuality
SIO_000300: 1.334154e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000392575
ensembl transcript: ENST00000414324
gene symbol: ELN
hgvsc: ENST00000414324.1:c.9T>C
hgvsp: ENST00000414324.1:c.9T>C(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369950
ensembl transcript: ENST00000380576
gene symbol: ELN
hgvsc: ENST00000380576.5:c.9T>C
hgvsp: ENST00000380576.5:c.9T>C(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000479432
gene symbol: ELN
hgvsc: ENST00000479432.1:n.24T>C
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389206
ensembl transcript: ENST00000438880
gene symbol: ELN
hgvsc: ENST00000438880.1:c.9T>C
hgvsp: ENST00000438880.1:c.9T>C(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369926
ensembl transcript: ENST00000380553
gene symbol: ELN
hgvsc: ENST00000380553.4:c.9T>C
hgvsp: ENST00000380553.4:c.9T>C(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000313565
ensembl transcript: ENST00000320399
gene symbol: ELN
hgvsc: ENST00000320399.6:c.9T>C
hgvsp: ENST00000320399.6:c.9T>C(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.83T>C
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.73T>C
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000315607
ensembl transcript: ENST00000320492
gene symbol: ELN
hgvsc: ENST00000320492.7:c.9T>C
hgvsp: ENST00000320492.7:c.9T>C(p.%3D)
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3533
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1229
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1429
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2482
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11416
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 654
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5968
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 408
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1498
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30223
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 933
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4039
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 284
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3311
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6994
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.234263144902493e-4
allele num: 8102
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.25e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.57e-1

FS
type: SiteQuality
SIO_000300: 7.194e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

DP
type: SiteQuality
SIO_000300: 1.331714e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.88C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000392575
ensembl transcript: ENST00000414324
gene symbol: ELN
hgvsc: ENST00000414324.1:c.14C>T
hgvsp: ENSP00000392575.1:p.Thr5Met
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000313565
ensembl transcript: ENST00000320399
gene symbol: ELN
hgvsc: ENST00000320399.6:c.14C>T
hgvsp: ENSP00000313565.6:p.Thr5Met
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000252034
ensembl transcript: ENST00000252034
gene symbol: ELN
hgvsc: ENST00000252034.7:c.14C>T
hgvsp: ENSP00000252034.7:p.Thr5Met
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.14C>T
hgvsp: ENSP00000391129.1:p.Thr5Met
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000404138
ensembl transcript: ENST00000416107
gene symbol: ELN
hgvsc: ENST00000416107.1:c.14C>T
hgvsp: ENSP00000404138.1:p.Thr5Met
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000351807
ensembl transcript: ENST00000358929
gene symbol: ELN
hgvsc: ENST00000358929.4:c.14C>T
hgvsp: ENSP00000351807.4:p.Thr5Met
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.58C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.29C>T
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 941
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5854
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1860
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3658
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1538
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29509
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11401
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1274
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 664
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2603
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6722
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3907
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35077
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.668444918644971e-5
allele num: 14996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57982
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.333e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 6.188e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.96e-1

DP
type: SiteQuality
SIO_000300: 1.330024e6

QD
type: SiteQuality
SIO_000300: 1.134e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000479432
gene symbol: ELN
hgvsc: ENST00000479432.1:n.30G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000313565
ensembl transcript: ENST00000320399
gene symbol: ELN
hgvsc: ENST00000320399.6:c.15G>A
hgvsp: ENST00000320399.6:c.15G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.15G>A
hgvsp: ENST00000429192.1:c.15G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000468517
gene symbol: ELN
hgvsc: ENST00000468517.1:n.77G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389206
ensembl transcript: ENST00000438880
gene symbol: ELN
hgvsc: ENST00000438880.1:c.15G>A
hgvsp: ENST00000438880.1:c.15G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389857
ensembl transcript: ENST00000445912
gene symbol: ELN
hgvsc: ENST00000445912.1:c.15G>A
hgvsp: ENST00000445912.1:c.15G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.79G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000351807
ensembl transcript: ENST00000358929
gene symbol: ELN
hgvsc: ENST00000358929.4:c.15G>A
hgvsp: ENST00000358929.4:c.15G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.59G>A
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 2568
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29580
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5827
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1532
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11454
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 665
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3625
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 943
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1278
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1832
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6868
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35666
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 532
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1913
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 709
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3927
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4578
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.354536950420954e-5
allele num: 10690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.997868939797549e-4
allele num: 15016
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.929e0

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.331174e6

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.22e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000315607
ensembl transcript: ENST00000320492
gene symbol: ELN
hgvsc: ENST00000320492.7:c.17C>T
hgvsp: ENSP00000315607.7:p.Ala6Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000399499
ensembl transcript: ENST00000428787
gene symbol: ELN
hgvsc: ENST00000428787.1:c.17C>T
hgvsp: ENSP00000399499.1:p.Ala6Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.32C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000392575
ensembl transcript: ENST00000414324
gene symbol: ELN
hgvsc: ENST00000414324.1:c.17C>T
hgvsp: ENSP00000392575.1:p.Ala6Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389206
ensembl transcript: ENST00000438880
gene symbol: ELN
hgvsc: ENST00000438880.1:c.17C>T
hgvsp: ENSP00000389206.1:p.Ala6Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000473323
gene symbol: ELN
hgvsc: ENST00000473323.1:n.29C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.91C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000351807
ensembl transcript: ENST00000358929
gene symbol: ELN
hgvsc: ENST00000358929.4:c.17C>T
hgvsp: ENSP00000351807.4:p.Ala6Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389857
ensembl transcript: ENST00000445912
gene symbol: ELN
hgvsc: ENST00000445912.1:c.17C>T
hgvsp: ENSP00000389857.1:p.Ala6Val
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 2075
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 947
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1255
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29173
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3726
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1562
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5895
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11408
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 664
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2545
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6658
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 771
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34364
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 275
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57746
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.238543472875898e-4
allele num: 8074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4532
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.325572e6

QD
type: SiteQuality
SIO_000300: 1.075e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.274e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.564e-1

FS
type: SiteQuality
SIO_000300: 1.434e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.82G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000313565
ensembl transcript: ENST00000320399
gene symbol: ELN
hgvsc: ENST00000320399.6:c.18G>A
hgvsp: ENST00000320399.6:c.18G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369936
ensembl transcript: ENST00000380562
gene symbol: ELN
hgvsc: ENST00000380562.4:c.18G>A
hgvsp: ENST00000380562.4:c.18G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389857
ensembl transcript: ENST00000445912
gene symbol: ELN
hgvsc: ENST00000445912.1:c.18G>A
hgvsp: ENST00000445912.1:c.18G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369926
ensembl transcript: ENST00000380553
gene symbol: ELN
hgvsc: ENST00000380553.4:c.18G>A
hgvsp: ENST00000380553.4:c.18G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.62G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000404138
ensembl transcript: ENST00000416107
gene symbol: ELN
hgvsc: ENST00000416107.1:c.18G>A
hgvsp: ENST00000416107.1:c.18G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.92G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369950
ensembl transcript: ENST00000380576
gene symbol: ELN
hgvsc: ENST00000380576.5:c.18G>A
hgvsp: ENST00000380576.5:c.18G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 39
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5887
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29188
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11472
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1240
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 665
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3736
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1577
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2549
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 943
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2010
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6890
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34968
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3884
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 949
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.726340503400891e-5
allele num: 57926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10668
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

FS
type: SiteQuality
SIO_000300: 2.661e0

QD
type: SiteQuality
SIO_000300: 2.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.326162e6

VQSLOD
type: SiteQuality
SIO_000300: -2.077e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000349540
ensembl transcript: ENST00000357036
gene symbol: ELN
hgvsc: ENST00000357036.5:c.20C>T
hgvsp: ENSP00000349540.5:p.Ala7Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000479432
gene symbol: ELN
hgvsc: ENST00000479432.1:n.35C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369949
ensembl transcript: ENST00000380575
gene symbol: ELN
hgvsc: ENST00000380575.4:c.20C>T
hgvsp: ENSP00000369949.4:p.Ala7Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000468517
gene symbol: ELN
hgvsc: ENST00000468517.1:n.82C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.35C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000351807
ensembl transcript: ENST00000358929
gene symbol: ELN
hgvsc: ENST00000358929.4:c.20C>T
hgvsp: ENSP00000351807.4:p.Ala7Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.20C>T
hgvsp: ENSP00000391129.1:p.Ala7Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000392575
ensembl transcript: ENST00000414324
gene symbol: ELN
hgvsc: ENST00000414324.1:c.20C>T
hgvsp: ENSP00000392575.1:p.Ala7Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369936
ensembl transcript: ENST00000380562
gene symbol: ELN
hgvsc: ENST00000380562.4:c.20C>T
hgvsp: ENSP00000369936.4:p.Ala7Val
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 28759
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 411
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3855
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 654
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1242
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6101
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2486
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 932
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11464
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1611
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2150
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 844
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6773
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33453
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3317
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 3742
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.963060961598719e-5
allele num: 57446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10652
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.338508901084192e-4
allele num: 14942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4468
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.257229067136032e-4
allele num: 7954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.105e0

DP
type: SiteQuality
SIO_000300: 1.319428e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000411092
ensembl transcript: ENST00000417091
gene symbol: ELN
hgvsc: ENST00000417091.1:c.21G>A
hgvsp: ENST00000417091.1:c.21G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.65G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000399499
ensembl transcript: ENST00000428787
gene symbol: ELN
hgvsc: ENST00000428787.1:c.21G>A
hgvsp: ENST00000428787.1:c.21G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000313565
ensembl transcript: ENST00000320399
gene symbol: ELN
hgvsc: ENST00000320399.6:c.21G>A
hgvsp: ENST00000320399.6:c.21G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000392575
ensembl transcript: ENST00000414324
gene symbol: ELN
hgvsc: ENST00000414324.1:c.21G>A
hgvsp: ENST00000414324.1:c.21G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000351807
ensembl transcript: ENST00000358929
gene symbol: ELN
hgvsc: ENST00000358929.4:c.21G>A
hgvsp: ENST00000358929.4:c.21G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000315607
ensembl transcript: ENST00000320492
gene symbol: ELN
hgvsc: ENST00000320492.7:c.21G>A
hgvsp: ENST00000320492.7:c.21G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000394549
ensembl transcript: ENST00000431562
gene symbol: ELN
hgvsc: ENST00000431562.1:c.21G>A
hgvsp: ENST00000431562.1:c.21G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 6133
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 650
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1631
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2094
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11482
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 927
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2426
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3843
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28880
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3313
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 557
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34208
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7143
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3784
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 936
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.732201628269531e-5
allele num: 57730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.246e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

DP
type: SiteQuality
SIO_000300: 1.3185e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.87e0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.776e0

MQ
type: SiteQuality
SIO_000300: 5.751e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000473323
gene symbol: ELN
hgvsc: ENST00000473323.1:n.38C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000399499
ensembl transcript: ENST00000428787
gene symbol: ELN
hgvsc: ENST00000428787.1:c.26C>T
hgvsp: ENSP00000399499.1:p.Pro9Leu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.26C>T
hgvsp: ENSP00000391129.1:p.Pro9Leu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000468517
gene symbol: ELN
hgvsc: ENST00000468517.1:n.88C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000315607
ensembl transcript: ENST00000320492
gene symbol: ELN
hgvsc: ENST00000320492.7:c.26C>T
hgvsp: ENSP00000315607.7:p.Pro9Leu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.41C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.70C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000411092
ensembl transcript: ENST00000417091
gene symbol: ELN
hgvsc: ENST00000417091.1:c.26C>T
hgvsp: ENSP00000411092.1:p.Pro9Leu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389206
ensembl transcript: ENST00000438880
gene symbol: ELN
hgvsc: ENST00000438880.1:c.26C>T
hgvsp: ENSP00000389206.1:p.Pro9Leu
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2449
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 928
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1624
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3843
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28866
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6240
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 2010
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11467
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1218
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34731
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1175
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 706
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7542
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3316
bin: 9.75e1
variant carriers: 6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.734424864714861e-5
allele num: 57656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.34001336005344e-4
allele num: 14970
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.89e-1

DP
type: SiteQuality
SIO_000300: 1.318254e6

QD
type: SiteQuality
SIO_000300: 1.099e1

FS
type: SiteQuality
SIO_000300: 4.069e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.100C>G
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369950
ensembl transcript: ENST00000380576
gene symbol: ELN
hgvsc: ENST00000380576.5:c.26C>G
hgvsp: ENSP00000369950.5:p.Pro9Arg
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000404138
ensembl transcript: ENST00000416107
gene symbol: ELN
hgvsc: ENST00000416107.1:c.26C>G
hgvsp: ENSP00000404138.1:p.Pro9Arg
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000468517
gene symbol: ELN
hgvsc: ENST00000468517.1:n.88C>G
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369926
ensembl transcript: ENST00000380553
gene symbol: ELN
hgvsc: ENST00000380553.4:c.26C>G
hgvsp: ENSP00000369926.4:p.Pro9Arg
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.41C>G
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369936
ensembl transcript: ENST00000380562
gene symbol: ELN
hgvsc: ENST00000380562.4:c.26C>G
hgvsp: ENSP00000369936.4:p.Pro9Arg
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.90C>G
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.70C>G
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 11467
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3843
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1624
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2010
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6240
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28866
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1218
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 928
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2449
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7542
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1175
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 641
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34731
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 930
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 339
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57656
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.244090569793481e-4
allele num: 8038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14970
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

FS
type: SiteQuality
SIO_000300: 4.069e0

VQSLOD
type: SiteQuality
SIO_000300: 5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.89e-1

QD
type: SiteQuality
SIO_000300: 1.099e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

DP
type: SiteQuality
SIO_000300: 1.318254e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.91G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.101G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.27G>A
hgvsp: ENST00000429192.1:c.27G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000313565
ensembl transcript: ENST00000320399
gene symbol: ELN
hgvsc: ENST00000320399.6:c.27G>A
hgvsp: ENST00000320399.6:c.27G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000468517
gene symbol: ELN
hgvsc: ENST00000468517.1:n.89G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000473323
gene symbol: ELN
hgvsc: ENST00000473323.1:n.39G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000351807
ensembl transcript: ENST00000358929
gene symbol: ELN
hgvsc: ENST00000358929.4:c.27G>A
hgvsp: ENST00000358929.4:c.27G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369949
ensembl transcript: ENST00000380575
gene symbol: ELN
hgvsc: ENST00000380575.4:c.27G>A
hgvsp: ENST00000380575.4:c.27G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000399499
ensembl transcript: ENST00000428787
gene symbol: ELN
hgvsc: ENST00000428787.1:c.27G>A
hgvsp: ENST00000428787.1:c.27G>A(p.%3D)
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1213
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 925
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3894
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2033
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1619
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6282
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2422
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11433
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28820
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7543
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1668
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3753
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.680919294494922e-5
allele num: 14968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.474273008372998e-5
allele num: 57566
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

FS
type: SiteQuality
SIO_000300: 3.072e0

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

DP
type: SiteQuality
SIO_000300: 1.316248e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389206
ensembl transcript: ENST00000438880
gene symbol: ELN
hgvsc: ENST00000438880.1:c.28C>T
hgvsp: ENSP00000389206.1:p.Arg10Trp
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000468517
gene symbol: ELN
hgvsc: ENST00000468517.1:n.90C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.92C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000479432
gene symbol: ELN
hgvsc: ENST00000479432.1:n.43C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389857
ensembl transcript: ENST00000445912
gene symbol: ELN
hgvsc: ENST00000445912.1:c.28C>T
hgvsp: ENSP00000389857.1:p.Arg10Trp
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.43C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369926
ensembl transcript: ENST00000380553
gene symbol: ELN
hgvsc: ENST00000380553.4:c.28C>T
hgvsp: ENSP00000369926.4:p.Arg10Trp
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.72C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000351807
ensembl transcript: ENST00000358929
gene symbol: ELN
hgvsc: ENST00000358929.4:c.28C>T
hgvsp: ENSP00000351807.4:p.Arg10Trp
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 11459
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1213
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2402
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6286
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 652
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1631
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1975
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3871
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28883
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7692
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3312
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1091
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 393
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34816
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3768
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.398496240601504e-5
allele num: 10640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57628
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14976
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 4.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.13e1

DP
type: SiteQuality
SIO_000300: 1.316772e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.95C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000399499
ensembl transcript: ENST00000428787
gene symbol: ELN
hgvsc: ENST00000428787.1:c.31C>T
hgvsp: ENSP00000399499.1:p.Pro11Ser
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000252034
ensembl transcript: ENST00000252034
gene symbol: ELN
hgvsc: ENST00000252034.7:c.31C>T
hgvsp: ENSP00000252034.7:p.Pro11Ser
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.75C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000351807
ensembl transcript: ENST00000358929
gene symbol: ELN
hgvsc: ENST00000358929.4:c.31C>T
hgvsp: ENSP00000351807.4:p.Pro11Ser
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000392575
ensembl transcript: ENST00000414324
gene symbol: ELN
hgvsc: ENST00000414324.1:c.31C>T
hgvsp: ENSP00000392575.1:p.Pro11Ser
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000473323
gene symbol: ELN
hgvsc: ENST00000473323.1:n.43C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369950
ensembl transcript: ENST00000380576
gene symbol: ELN
hgvsc: ENST00000380576.5:c.31C>T
hgvsp: ENSP00000369950.5:p.Pro11Ser
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369949
ensembl transcript: ENST00000380575
gene symbol: ELN
hgvsc: ENST00000380575.4:c.31C>T
hgvsp: ENSP00000369949.4:p.Pro11Ser
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 2379
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28882
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11496
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3939
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1884
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6346
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1597
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1215
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 923
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3311
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7889
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35081
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3746
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57622
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.393199323689649e-5
allele num: 10646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8086
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14968
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.113e1

VQSLOD
type: SiteQuality
SIO_000300: -1.217e0

DP
type: SiteQuality
SIO_000300: 1.31647e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.28e-1

MQ
type: SiteQuality
SIO_000300: 5.861e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389206
ensembl transcript: ENST00000438880
gene symbol: ELN
hgvsc: ENST00000438880.1:c.32C>T
hgvsp: ENSP00000389206.1:p.Pro11Leu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369949
ensembl transcript: ENST00000380575
gene symbol: ELN
hgvsc: ENST00000380575.4:c.32C>T
hgvsp: ENSP00000369949.4:p.Pro11Leu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.76C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369950
ensembl transcript: ENST00000380576
gene symbol: ELN
hgvsc: ENST00000380576.5:c.32C>T
hgvsp: ENSP00000369950.5:p.Pro11Leu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369936
ensembl transcript: ENST00000380562
gene symbol: ELN
hgvsc: ENST00000380562.4:c.32C>T
hgvsp: ENSP00000369936.4:p.Pro11Leu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000404138
ensembl transcript: ENST00000416107
gene symbol: ELN
hgvsc: ENST00000416107.1:c.32C>T
hgvsp: ENSP00000404138.1:p.Pro11Leu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.32C>T
hgvsp: ENSP00000391129.1:p.Pro11Leu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.47C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.106C>T
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4040
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28765
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1860
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6384
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1213
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11492
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 924
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1607
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2379
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7999
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34687
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3311
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.398496240601504e-5
allele num: 10640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57590
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.159e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.314782e6

MQ
type: SiteQuality
SIO_000300: 5.855e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

QD
type: SiteQuality
SIO_000300: 1.156e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000315607
ensembl transcript: ENST00000320492
gene symbol: ELN
hgvsc: ENST00000320492.7:c.33C>T
hgvsp: ENST00000320492.7:c.33C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000468517
gene symbol: ELN
hgvsc: ENST00000468517.1:n.95C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369926
ensembl transcript: ENST00000380553
gene symbol: ELN
hgvsc: ENST00000380553.4:c.33C>T
hgvsp: ENST00000380553.4:c.33C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000479432
gene symbol: ELN
hgvsc: ENST00000479432.1:n.48C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.48C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.97C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.33C>T
hgvsp: ENST00000429192.1:c.33C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000252034
ensembl transcript: ENST00000252034
gene symbol: ELN
hgvsc: ENST00000252034.7:c.33C>T
hgvsp: ENST00000252034.7:c.33C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000313565
ensembl transcript: ENST00000320399
gene symbol: ELN
hgvsc: ENST00000320399.6:c.33C>T
hgvsp: ENST00000320399.6:c.33C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 4025
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1218
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11495
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1756
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1596
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2408
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6394
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28849
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35160
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1604
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3736
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3311
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8068
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.737196859148079e-5
allele num: 57564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10638
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.331e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 1.315908e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 4.985e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000252034
ensembl transcript: ENST00000252034
gene symbol: ELN
hgvsc: ENST00000252034.7:c.34G>A
hgvsp: ENSP00000252034.7:p.Gly12Arg
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000313565
ensembl transcript: ENST00000320399
gene symbol: ELN
hgvsc: ENST00000320399.6:c.34G>A
hgvsp: ENSP00000313565.6:p.Gly12Arg
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.98G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.34G>A
hgvsp: ENSP00000391129.1:p.Gly12Arg
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.78G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.108G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000403162
ensembl transcript: ENST00000458204
gene symbol: ELN
hgvsc: ENST00000458204.1:c.34G>A
hgvsp: ENSP00000403162.1:p.Gly12Arg
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369926
ensembl transcript: ENST00000380553
gene symbol: ELN
hgvsc: ENST00000380553.4:c.34G>A
hgvsp: ENSP00000369926.4:p.Gly12Arg
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000473323
gene symbol: ELN
hgvsc: ENST00000473323.1:n.46G>A
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4016
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1563
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 28940
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1659
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6414
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1220
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 934
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 11523
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2405
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8131
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3318
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1576
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35497
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.715630418627694e-4
allele num: 8074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.690211345939934e-5
allele num: 57536
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.317324e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000479432
gene symbol: ELN
hgvsc: ENST00000479432.1:n.50G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389206
ensembl transcript: ENST00000438880
gene symbol: ELN
hgvsc: ENST00000438880.1:c.35G>A
hgvsp: ENSP00000389206.1:p.Gly12Glu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.109G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389857
ensembl transcript: ENST00000445912
gene symbol: ELN
hgvsc: ENST00000445912.1:c.35G>A
hgvsp: ENSP00000389857.1:p.Gly12Glu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000313565
ensembl transcript: ENST00000320399
gene symbol: ELN
hgvsc: ENST00000320399.6:c.35G>A
hgvsp: ENSP00000313565.6:p.Gly12Glu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369926
ensembl transcript: ENST00000380553
gene symbol: ELN
hgvsc: ENST00000380553.4:c.35G>A
hgvsp: ENSP00000369926.4:p.Gly12Glu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369958
ensembl transcript: ENST00000380584
gene symbol: ELN
hgvsc: ENST00000380584.4:c.35G>A
hgvsp: ENSP00000369958.4:p.Gly12Glu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000394549
ensembl transcript: ENST00000431562
gene symbol: ELN
hgvsc: ENST00000431562.1:c.35G>A
hgvsp: ENSP00000394549.1:p.Gly12Glu
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000411092
ensembl transcript: ENST00000417091
gene symbol: ELN
hgvsc: ENST00000417091.1:c.35G>A
hgvsp: ENSP00000411092.1:p.Gly12Glu
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 1545
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2381
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28811
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11501
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1652
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6508
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4144
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8324
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3315
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 997
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3715
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35318
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.222222222222222e-4
allele num: 4500
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.084e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

FS
type: SiteQuality
SIO_000300: 4.013e0

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.314359e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.332e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000351807
ensembl transcript: ENST00000358929
gene symbol: ELN
hgvsc: ENST00000358929.4:c.35G>T
hgvsp: ENSP00000351807.4:p.Gly12Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000411092
ensembl transcript: ENST00000417091
gene symbol: ELN
hgvsc: ENST00000417091.1:c.35G>T
hgvsp: ENSP00000411092.1:p.Gly12Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.99G>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000315607
ensembl transcript: ENST00000320492
gene symbol: ELN
hgvsc: ENST00000320492.7:c.35G>T
hgvsp: ENSP00000315607.7:p.Gly12Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.35G>T
hgvsp: ENSP00000391129.1:p.Gly12Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000399499
ensembl transcript: ENST00000428787
gene symbol: ELN
hgvsc: ENST00000428787.1:c.35G>T
hgvsp: ENSP00000399499.1:p.Gly12Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000392575
ensembl transcript: ENST00000414324
gene symbol: ELN
hgvsc: ENST00000414324.1:c.35G>T
hgvsp: ENSP00000392575.1:p.Gly12Val
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000468517
gene symbol: ELN
hgvsc: ENST00000468517.1:n.97G>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369926
ensembl transcript: ENST00000380553
gene symbol: ELN
hgvsc: ENST00000380553.4:c.35G>T
hgvsp: ENSP00000369926.4:p.Gly12Val
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6508
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11501
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4144
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2381
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 926
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1205
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1545
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1652
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 649
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28811
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8324
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3715
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3315
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 478
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.214308061320263e-5
allele num: 57534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.314359e6

FS
type: SiteQuality
SIO_000300: 4.013e0

QD
type: SiteQuality
SIO_000300: 1.084e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.332e0

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000403162
ensembl transcript: ENST00000458204
gene symbol: ELN
hgvsc: ENST00000458204.1:c.37G>A
hgvsp: ENSP00000403162.1:p.Val13Ile
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000351807
ensembl transcript: ENST00000358929
gene symbol: ELN
hgvsc: ENST00000358929.4:c.37G>A
hgvsp: ENSP00000351807.4:p.Val13Ile
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000394549
ensembl transcript: ENST00000431562
gene symbol: ELN
hgvsc: ENST00000431562.1:c.37G>A
hgvsp: ENSP00000394549.1:p.Val13Ile
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000315607
ensembl transcript: ENST00000320492
gene symbol: ELN
hgvsc: ENST00000320492.7:c.37G>A
hgvsp: ENSP00000315607.7:p.Val13Ile
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389857
ensembl transcript: ENST00000445912
gene symbol: ELN
hgvsc: ENST00000445912.1:c.37G>A
hgvsp: ENSP00000389857.1:p.Val13Ile
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000473323
gene symbol: ELN
hgvsc: ENST00000473323.1:n.49G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.37G>A
hgvsp: ENSP00000391129.1:p.Val13Ile
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.101G>A
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000389206
ensembl transcript: ENST00000438880
gene symbol: ELN
hgvsc: ENST00000438880.1:c.37G>A
hgvsp: ENSP00000389206.1:p.Val13Ile
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 1206
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11552
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1473
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 650
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6617
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4225
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28708
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1619
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 923
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2353
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8569
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35496
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3736
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.704210244033253e-5
allele num: 14916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10602
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.858e0

DP
type: SiteQuality
SIO_000300: 1.313634e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.675e0

FS
type: SiteQuality
SIO_000300: 7.392e0

QD
type: SiteQuality
SIO_000300: 1.229e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: -1.167e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.123C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.49C>T
hgvsp: ENST00000429192.1:c.49C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.113C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000468517
gene symbol: ELN
hgvsc: ENST00000468517.1:n.111C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.64C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000404138
ensembl transcript: ENST00000416107
gene symbol: ELN
hgvsc: ENST00000416107.1:c.49C>T
hgvsp: ENST00000416107.1:c.49C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000392575
ensembl transcript: ENST00000414324
gene symbol: ELN
hgvsc: ENST00000414324.1:c.49C>T
hgvsp: ENST00000414324.1:c.49C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000315607
ensembl transcript: ENST00000320492
gene symbol: ELN
hgvsc: ENST00000320492.7:c.49C>T
hgvsp: ENST00000320492.7:c.49C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000403162
ensembl transcript: ENST00000458204
gene symbol: ELN
hgvsc: ENST00000458204.1:c.49C>T
hgvsp: ENST00000458204.1:c.49C>T(p.%3D)
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1476
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27410
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1202
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7250
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 649
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5024
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11638
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2369
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 925
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1403
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34251
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9958
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3312
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 574
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.510373152666129e-5
allele num: 56974
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14756
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

QD
type: SiteQuality
SIO_000300: 6.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

FS
type: SiteQuality
SIO_000300: 9.803000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.007e0

DP
type: SiteQuality
SIO_000300: 1.300807e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.61C>T
hgvsp: ENSP00000391129.1:p.Leu21Phe
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369958
ensembl transcript: ENST00000380584
gene symbol: ELN
hgvsc: ENST00000380584.4:c.61C>T
hgvsp: ENSP00000369958.4:p.Leu21Phe
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000479432
gene symbol: ELN
hgvsc: ENST00000479432.1:n.76C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000468517
gene symbol: ELN
hgvsc: ENST00000468517.1:n.123C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000473323
gene symbol: ELN
hgvsc: ENST00000473323.1:n.73C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000315607
ensembl transcript: ENST00000320492
gene symbol: ELN
hgvsc: ENST00000320492.7:c.61C>T
hgvsp: ENSP00000315607.7:p.Leu21Phe
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.76C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000492003
gene symbol: ELN
hgvsc: ENST00000492003.1:n.125C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.135C>T
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 1583
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8922
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21238
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2421
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 650
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2391
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9085
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1210
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10884
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13754
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1074
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26473
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1616
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2263
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3315
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 478
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4156
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.278437582475588e-4
allele num: 7578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.33e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.562e0

DP
type: SiteQuality
SIO_000300: 1.224175e6

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.45e-1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000404138
ensembl transcript: ENST00000416107
gene symbol: ELN
hgvsc: ENST00000416107.1:c.64C>T
hgvsp: ENSP00000404138.1:p.His22Tyr
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000315607
ensembl transcript: ENST00000320492
gene symbol: ELN
hgvsc: ENST00000320492.7:c.64C>T
hgvsp: ENSP00000315607.7:p.His22Tyr
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000369926
ensembl transcript: ENST00000380553
gene symbol: ELN
hgvsc: ENST00000380553.4:c.64C>T
hgvsp: ENSP00000369926.4:p.His22Tyr
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000313565
ensembl transcript: ENST00000320399
gene symbol: ELN
hgvsc: ENST00000320399.6:c.64C>T
hgvsp: ENSP00000313565.6:p.His22Tyr
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000494160
gene symbol: ELN
hgvsc: ENST00000494160.1:n.138C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000462506
gene symbol: ELN
hgvsc: ENST00000462506.1:n.79C>T
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000391129
ensembl transcript: ENST00000429192
gene symbol: ELN
hgvsc: ENST00000429192.1:c.64C>T
hgvsp: ENSP00000391129.1:p.His22Tyr
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000049540
ensembl protein: ENSP00000351807
ensembl transcript: ENST00000358929
gene symbol: ELN
hgvsc: ENST00000358929.4:c.64C>T
hgvsp: ENSP00000351807.4:p.His22Tyr
variant of: http://identifiers.org/hgnc/3327

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000049540
ensembl transcript: ENST00000480728
gene symbol: ELN
hgvsc: ENST00000480728.1:n.108C>T
variant of: http://identifiers.org/hgnc/3327

GenotypeDepth
all individuals: 924
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8977
bin: 1.25e1
variant carriers: 0