17-74003620-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003620
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003620
    reference: chr 17
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6135A>G
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5732A>G
  hgvsp: ENSP00000465630.1:p.Glu1911Gly
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5666A>G
  hgvsp: ENSP00000301607.2:p.Glu1889Gly
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu1889Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-74003622-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003622
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003622
    reference: chr 17
allele count: 6
allele frequency: 4.943968358602505e-5
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5730C>G
  hgvsp: ENSP00000465630.1:p.Ile1910Met
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5664C>G
  hgvsp: ENSP00000301607.2:p.Ile1888Met
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6133C>G
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile1888Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-74003622-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003622
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003622
    reference: chr 17
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6133C>A
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5664C>A
  hgvsp: ENST00000301607.3:c.5664C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5730C>A
  hgvsp: ENST00000586740.1:c.5730C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5429
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile1888Ile
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-74003625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003625
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003625
    reference: chr 17
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6130G>A
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5727G>A
  hgvsp: ENST00000586740.1:c.5727G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5661G>A
  hgvsp: ENST00000301607.3:c.5661G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15486
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5427
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1887Leu
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: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-74003627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003627
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003627
    reference: chr 17
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6128C>T
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5725C>T
  hgvsp: ENST00000586740.1:c.5725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5659C>T
  hgvsp: ENST00000301607.3:c.5659C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu1887Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/17-74003630-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003630
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003630
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6125G>T
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5722G>T
  hgvsp: ENSP00000465630.1:p.Gly1908Cys
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5656G>T
  hgvsp: ENSP00000301607.2:p.Gly1886Cys
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48160
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1886Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

17-74003639-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003639
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003639
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5647A>T
  hgvsp: ENSP00000301607.2:p.Met1883Leu
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5713A>T
  hgvsp: ENSP00000465630.1:p.Met1905Leu
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6116A>T
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met1883Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-74003640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003640
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003640
    reference: chr 17
allele count: 9
allele frequency: 7.41534151767323e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5712G>A
  hgvsp: ENST00000586740.1:c.5712G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6115G>A
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5646G>A
  hgvsp: ENST00000301607.3:c.5646G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1882Ala
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

17-74003641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003641
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003641
    reference: chr 17
allele count: 4
allele frequency: 3.295761650517435e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5711C>T
  hgvsp: ENSP00000465630.1:p.Ala1904Val
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6114C>T
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5645C>T
  hgvsp: ENSP00000301607.2:p.Ala1882Val
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1882Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

17-74003647-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003647
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003647
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6108A>G
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5705A>G
  hgvsp: ENSP00000465630.1:p.His1902Arg
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5639A>G
  hgvsp: ENSP00000301607.2:p.His1880Arg
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His1880Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

17-74003648-GCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003648
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003646
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6105_6106delTG
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5636_5637delTG
  hgvsp: ENSP00000301607.2:p.Val1879AlafsTer19
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5702_5703delTG
  hgvsp: ENSP00000465630.1:p.Val1901AlafsTer19
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val1879AlafsTer19
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: GCA
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

17-74003657-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003657
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003657
    reference: chr 17
allele count: 22
allele frequency: 1.812489701763058e-4
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5695T>C
  hgvsp: ENSP00000465630.1:p.Tyr1899His
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5629T>C
  hgvsp: ENSP00000301607.2:p.Tyr1877His
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6098T>C
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr1877His
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

17-74003659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003659
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003659
    reference: chr 17
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6096G>A
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5627G>A
  hgvsp: ENSP00000301607.2:p.Arg1876His
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5693G>A
  hgvsp: ENSP00000465630.1:p.Arg1898His
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1876His
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-74003665-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003665
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003665
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5621G>A
  hgvsp: ENSP00000301607.2:p.Arg1874His
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6090G>A
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5687G>A
  hgvsp: ENSP00000465630.1:p.Arg1896His
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48097
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1874His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

17-74003666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003666
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003666
    reference: chr 17
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5686C>T
  hgvsp: ENSP00000465630.1:p.Arg1896Cys
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6089C>T
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5620C>T
  hgvsp: ENSP00000301607.2:p.Arg1874Cys
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1874Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

17-74003667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003667
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003667
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5685C>T
  hgvsp: ENST00000586740.1:c.5685C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5619C>T
  hgvsp: ENST00000301607.3:c.5619C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6088C>T
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48086
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1873Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/17-74003668-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003668
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003668
    reference: chr 17
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5684G>T
  hgvsp: ENSP00000465630.1:p.Ser1895Ile
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6087G>T
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5618G>T
  hgvsp: ENSP00000301607.2:p.Ser1873Ile
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15479
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48083
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5420
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1873Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

17-74003681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003681
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003681
    reference: chr 17
allele count: 5
allele frequency: 4.119837843182493e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6074G>A
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5605G>A
  hgvsp: ENSP00000301607.2:p.Val1869Met
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5671G>A
  hgvsp: ENSP00000465630.1:p.Val1891Met
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5415
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val1869Met
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

17-74003682-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003682
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003682
    reference: chr 17
allele count: 7
allele frequency: 5.767868031179447e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5670C>T
  hgvsp: ENST00000586740.1:c.5670C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5604C>T
  hgvsp: ENST00000301607.3:c.5604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6073C>T
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 36808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile1868Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-74003686-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003686
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003686
    reference: chr 17
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6069G>T
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5666G>T
  hgvsp: ENSP00000465630.1:p.Gly1889Val
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5600G>T
  hgvsp: ENSP00000301607.2:p.Gly1867Val
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1867Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS

17-74003686-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003686
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003686
    reference: chr 17
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6069G>C
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5600G>C
  hgvsp: ENSP00000301607.2:p.Gly1867Ala
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5666G>C
  hgvsp: ENSP00000465630.1:p.Gly1889Ala
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly1867Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD

17-74003692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003692
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003692
    reference: chr 17
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6063C>T
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5594C>T
  hgvsp: ENSP00000301607.2:p.Thr1865Ile
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5660C>T
  hgvsp: ENSP00000465630.1:p.Thr1887Ile
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1865Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/17-74003697-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003697
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003697
    reference: chr 17
allele count: 387
allele frequency: 3.189069813435296e-3
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5655G>T
  hgvsp: ENST00000586740.1:c.5655G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6058G>T
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5589G>T
  hgvsp: ENST00000301607.3:c.5589G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 36756
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15376
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 9.75e1
  variant carriers: 383
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5349
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala1863Ala
num of homozygotes: 4
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

17-74003697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003697
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003697
    reference: chr 17
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5655G>A
  hgvsp: ENST00000586740.1:c.5655G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6058G>A
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5589G>A
  hgvsp: ENST00000301607.3:c.5589G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1863Ala
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-74003698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003698
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003698
    reference: chr 17
allele count: 4
allele frequency: 3.296522169111587e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6057C>T
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5588C>T
  hgvsp: ENSP00000301607.2:p.Ala1863Val
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5654C>T
  hgvsp: ENSP00000465630.1:p.Ala1885Val
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1863Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-74003710-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003710
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003710
    reference: chr 17
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6045T>C
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5642T>C
  hgvsp: ENSP00000465630.1:p.Leu1881Pro
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5576T>C
  hgvsp: ENSP00000301607.2:p.Leu1859Pro
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5350
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1859Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-74003717-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003717
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003717
    reference: chr 17
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6038A>G
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5569A>G
  hgvsp: ENSP00000301607.2:p.Lys1857Glu
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5635A>G
  hgvsp: ENSP00000465630.1:p.Lys1879Glu
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys1857Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-74003724-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003724
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003724
    reference: chr 17
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5628T>G
  hgvsp: ENST00000586740.1:c.5628T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6031T>G
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5562T>G
  hgvsp: ENST00000301607.3:c.5562T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47940
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr1854Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-74003732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003732
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003732
    reference: chr 17
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6023C>T
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5620C>T
  hgvsp: ENSP00000465630.1:p.Pro1874Ser
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5554C>T
  hgvsp: ENSP00000301607.2:p.Pro1852Ser
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47980
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1852Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-74003738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003738
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003738
    reference: chr 17
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5614C>T
  hgvsp: ENST00000586740.1:c.5614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5548C>T
  hgvsp: ENST00000301607.3:c.5548C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6017C>T
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu1850Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

17-74003742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003742
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003742
    reference: chr 17
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5610C>T
  hgvsp: ENST00000586740.1:c.5610C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6013C>T
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5544C>T
  hgvsp: ENST00000301607.3:c.5544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn1848Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum

17-74003751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003751
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003751
    reference: chr 17
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5601G>A
  hgvsp: ENST00000586740.1:c.5601G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6004G>A
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5535G>A
  hgvsp: ENST00000301607.3:c.5535G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val1845Val
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

17-74003755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003755
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003755
    reference: chr 17
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5531C>T
  hgvsp: ENSP00000301607.2:p.Ala1844Val
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5597C>T
  hgvsp: ENSP00000465630.1:p.Ala1866Val
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.6000C>T
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1844Val
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

17-74003757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003757
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003757
    reference: chr 17
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5529G>A
  hgvsp: ENST00000301607.3:c.5529G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5595G>A
  hgvsp: ENST00000586740.1:c.5595G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.5998G>A
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5391
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1843Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

17-74003758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003758
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003758
    reference: chr 17
allele count: 4
allele frequency: 3.296087544085171e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5594C>T
  hgvsp: ENSP00000465630.1:p.Thr1865Met
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.5997C>T
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5528C>T
  hgvsp: ENSP00000301607.2:p.Thr1843Met
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47992
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Thr1843Met
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-74003761-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003761
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003761
    reference: chr 17
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5525A>G
  hgvsp: ENSP00000301607.2:p.Lys1842Arg
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.5994A>G
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5591A>G
  hgvsp: ENSP00000465630.1:p.Lys1864Arg
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48002
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys1842Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff

17-74003772-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003772
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003772
    reference: chr 17
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5514G>A
  hgvsp: ENST00000301607.3:c.5514G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5580G>A
  hgvsp: ENST00000586740.1:c.5580G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.5983G>A
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys1838Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

17-74003772-CTTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003772
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003769
    reference: chr 17
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5511_5513delCAA
  hgvsp: ENSP00000301607.2:p.Asn1837del
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5577_5579delCAA
  hgvsp: ENSP00000465630.1:p.Asn1859del
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.5980_5982delCAA
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn1837del
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: CTTG
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-74003773-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003773
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003773
    reference: chr 17
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.5982A>T
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5579A>T
  hgvsp: ENSP00000465630.1:p.Lys1860Met
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5513A>T
  hgvsp: ENSP00000301607.2:p.Lys1838Met
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47983
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Lys1838Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

17-74003776-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003776
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003776
    reference: chr 17
allele count: 10
allele frequency: 8.242528148233626e-5
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.5979A>G
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5510A>G
  hgvsp: ENSP00000301607.2:p.Asn1837Ser
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5576A>G
  hgvsp: ENSP00000465630.1:p.Asn1859Ser
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn1837Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

17-74003778-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003778
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003778
    reference: chr 17
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5508C>A
  hgvsp: ENSP00000301607.2:p.Asp1836Glu
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5574C>A
  hgvsp: ENSP00000465630.1:p.Asp1858Glu
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.5977C>A
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp1836Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

17-74003782-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003782
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003782
    reference: chr 17
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.5973C>G
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5570C>G
  hgvsp: ENSP00000465630.1:p.Thr1857Arg
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5504C>G
  hgvsp: ENSP00000301607.2:p.Thr1835Arg
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47965
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1835Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-74003794-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003794
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003794
    reference: chr 17
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5558A>G
  hgvsp: ENSP00000465630.1:p.Tyr1853Cys
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5492A>G
  hgvsp: ENSP00000301607.2:p.Tyr1831Cys
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.5961A>G
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr1831Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

17-74003796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74003796
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 74003796
    reference: chr 17
allele count: 2
allele frequency: 1.648858989579211e-5
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000301607
  ensembl transcript: ENST00000301607
  gene symbol: EVPL
  hgvsc: ENST00000301607.3:c.5490C>T
  hgvsp: ENST00000301607.3:c.5490C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167880
  ensembl protein: ENSP00000465630
  ensembl transcript: ENST00000586740
  gene symbol: EVPL
  hgvsc: ENST00000586740.1:c.5556C>T
  hgvsp: ENST00000586740.1:c.5556C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167880
  ensembl transcript: ENST00000587569
  gene symbol: EVPL
  hgvsc: ENST00000587569.1:n.5959C>T
  variant of: http://identifiers.org/hgnc/3503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile1830Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-18684105-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684105
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684105
    reference: chr 19
allele count: 1
allele frequency: 8.275953389830508e-6
allele num: 120832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.-6G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.55G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.-6G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.-6G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-288C>A
  variant of: http://identifiers.org/hgnc/2364
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-6G>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-18684119-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684119
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684119
    reference: chr 19
allele count: 2
allele frequency: 1.650927821435647e-5
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.9C>T
  hgvsp: ENST00000599595.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.9C>T
  hgvsp: ENST00000597451.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.9C>T
  hgvsp: ENST00000595683.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.9C>T
  hgvsp: ENST00000599551.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.9C>T
  hgvsp: ENST00000430157.2:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.9C>T
  hgvsp: ENST00000595158.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.9C>T
  hgvsp: ENST00000599256.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.9C>T
  hgvsp: ENST00000596273.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.9C>T
  hgvsp: ENST00000442744.2:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.9C>T
  hgvsp: ENST00000598780.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.69C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.9C>T
  hgvsp: ENST00000596304.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-302G>A
  variant of: http://identifiers.org/hgnc/2364
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile3Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

19-18684147-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684147
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684147
    reference: chr 19
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.37A>G
  hgvsp: ENSP00000396910.1:p.Ile13Val
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.37A>G
  hgvsp: ENSP00000472264.1:p.Ile13Val
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.37A>G
  hgvsp: ENSP00000470507.1:p.Ile13Val
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.37A>G
  hgvsp: ENSP00000471622.1:p.Ile13Val
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.37A>G
  hgvsp: ENSP00000472137.1:p.Ile13Val
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.37A>G
  hgvsp: ENSP00000470419.1:p.Ile13Val
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.37A>G
  hgvsp: ENSP00000471062.1:p.Ile13Val
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.37A>G
  hgvsp: ENSP00000473048.1:p.Ile13Val
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.97A>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.37A>G
  hgvsp: ENSP00000471464.1:p.Ile13Val
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.37A>G
  hgvsp: ENSP00000388107.1:p.Ile13Val
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.37A>G
  hgvsp: ENSP00000472545.1:p.Ile13Val
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-330T>C
  variant of: http://identifiers.org/hgnc/2364
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile13Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

19-18684167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684167
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684167
    reference: chr 19
allele count: 2
allele frequency: 1.653411815280832e-5
allele num: 120962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.57C>T
  hgvsp: ENST00000595158.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.117C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.57C>T
  hgvsp: ENST00000596273.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.57C>T
  hgvsp: ENST00000597451.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.57C>T
  hgvsp: ENST00000598780.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.57C>T
  hgvsp: ENST00000430157.2:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-350G>A
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.3C>T
  hgvsp: ENST00000596272.1:c.3C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.57C>T
  hgvsp: ENST00000595683.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.57C>T
  hgvsp: ENST00000599256.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.57C>T
  hgvsp: ENST00000442744.2:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.57C>T
  hgvsp: ENST00000599595.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.57C>T
  hgvsp: ENST00000599551.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.57C>T
  hgvsp: ENST00000596304.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro19Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-18684175-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684175
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684175
    reference: chr 19
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.65C>T
  hgvsp: ENSP00000396910.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.65C>T
  hgvsp: ENSP00000470419.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.65C>T
  hgvsp: ENSP00000471622.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.65C>T
  hgvsp: ENSP00000471062.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.65C>T
  hgvsp: ENSP00000473048.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.65C>T
  hgvsp: ENSP00000472264.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.65C>T
  hgvsp: ENSP00000470507.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.65C>T
  hgvsp: ENSP00000471464.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.65C>T
  hgvsp: ENSP00000388107.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.125C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.11C>T
  hgvsp: ENSP00000472768.1:p.Thr4Ile
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.65C>T
  hgvsp: ENSP00000472137.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-358G>A
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.65C>T
  hgvsp: ENSP00000472545.1:p.Thr22Ile
  variant of: http://identifiers.org/hgnc/12458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr22Ile
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-18684178-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684178
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684178
    reference: chr 19
allele count: 1
allele frequency: 8.298066550493736e-6
allele num: 120510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.68T>C
  hgvsp: ENSP00000471062.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.68T>C
  hgvsp: ENSP00000472137.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.14T>C
  hgvsp: ENSP00000472768.1:p.Ile5Thr
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.68T>C
  hgvsp: ENSP00000470507.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.68T>C
  hgvsp: ENSP00000470419.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.68T>C
  hgvsp: ENSP00000388107.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.128T>C
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.68T>C
  hgvsp: ENSP00000473048.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.68T>C
  hgvsp: ENSP00000396910.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.68T>C
  hgvsp: ENSP00000472545.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.68T>C
  hgvsp: ENSP00000471622.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.68T>C
  hgvsp: ENSP00000471464.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-361A>G
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.68T>C
  hgvsp: ENSP00000472264.1:p.Ile23Thr
  variant of: http://identifiers.org/hgnc/12458
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile23Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-18684194-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684194
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684194
    reference: chr 19
allele count: 6
allele frequency: 5.056549073808761e-5
allele num: 118658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.84C>T
  hgvsp: ENST00000596273.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.84C>T
  hgvsp: ENST00000599256.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-377G>A
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.84C>T
  hgvsp: ENST00000599551.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.84C>T
  hgvsp: ENST00000595158.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.84C>T
  hgvsp: ENST00000595683.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.84C>T
  hgvsp: ENST00000599595.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.9C>T
  hgvsp: ENST00000594527.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.84C>T
  hgvsp: ENST00000442744.2:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.30C>T
  hgvsp: ENST00000596272.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.84C>T
  hgvsp: ENST00000596304.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.84C>T
  hgvsp: ENST00000597451.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.144C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.84C>T
  hgvsp: ENST00000430157.2:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.84C>T
  hgvsp: ENST00000598780.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala28Ala
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

19-18684230-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684230
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684230
    reference: chr 19
allele count: 1
allele frequency: 9.494692466910997e-6
allele num: 105322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.103+17G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.103+17G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-413C>A
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.103+17G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.103+17G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.103+17G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.103+17G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.180G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.103+17G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.28+17G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.103+17G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.103+17G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.103+17G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.103+17G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.49+17G>T
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9726
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

19-18684232-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684232
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684232
    reference: chr 19
allele count: 1
allele frequency: 9.615014807122803e-6
allele num: 104004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.103+19G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-415C>T
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.103+19G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.103+19G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.103+19G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.103+19G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.103+19G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.103+19G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.182G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.103+19G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.103+19G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.103+19G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.28+19G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.49+19G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.103+19G>A
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

19-18684232-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684232
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684232
    reference: chr 19
allele count: 8
allele frequency: 7.692011845698243e-5
allele num: 104004
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.103+19G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.28+19G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.103+19G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.103+19G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.103+19G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.103+19G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.103+19G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.182G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.103+19G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.103+19G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-415C>A
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.103+19G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.103+19G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.103+19G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.49+19G>T
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19755
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8395
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

19-18684233-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684233
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684233
    reference: chr 19
allele count: 1
allele frequency: 9.632797749778446e-6
allele num: 103812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-416C>A
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.103+20G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.103+20G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.103+20G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.183G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.103+20G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.103+20G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.28+20G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.49+20G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.103+20G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.103+20G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.103+20G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.103+20G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.103+20G>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.103+20G>T
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

19-18684235-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684235
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684235
    reference: chr 19
allele count: 1
allele frequency: 9.731223604055973e-6
allele num: 102762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.103+22G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-418C>T
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.103+22G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.103+22G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.28+22G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.185G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.103+22G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.103+22G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.103+22G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.103+22G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.103+22G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.103+22G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.49+22G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.103+22G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.103+22G>A
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8569
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-18684243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684243
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684243
    reference: chr 19
allele count: 1
allele frequency: 1.012555690562981e-5
allele num: 98760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.103+30C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.103+30C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.103+30C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.103+30C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.103+30C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.103+30C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.103+30C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.103+30C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.103+30C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.49+30C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-426G>A
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.28+30C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.193C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.103+30C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.103+30C>T
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8911
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

19-18684246-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684246
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684246
    reference: chr 19
allele count: 1
allele frequency: 1.026462195397344e-5
allele num: 97422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.103+33T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.103+33T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.103+33T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.103+33T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.103+33T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.103+33T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.103+33T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.28+33T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.103+33T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.103+33T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.103+33T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.196T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-429A>T
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.103+33T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.49+33T>A
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

19-18684260-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684260
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684260
    reference: chr 19
allele count: 4
allele frequency: 4.423800044238e-5
allele num: 90420
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.49+47C>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.103+47C>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.103+47C>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.103+47C>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-443G>C
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.103+47C>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.103+47C>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.103+47C>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.210C>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.28+47C>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.103+47C>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.103+47C>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.103+47C>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.103+47C>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.103+47C>G
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19326
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12210
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

19-18684427-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684427
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684427
    reference: chr 19
allele count: 1
allele frequency: 8.318083513558476e-6
allele num: 120220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.377T>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.104-45T>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.104-45T>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.104-45T>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.29-45T>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.50-45T>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.104-45T>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.104-45T>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.104-45T>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-610A>C
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.104-45T>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.104-45T>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.104-45T>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.104-45T>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.104-45T>G
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12901
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-18684428-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684428
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684428
    reference: chr 19
allele count: 1
allele frequency: 8.315731701232391e-6
allele num: 120254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.50-44A>C
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.104-44A>C
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.104-44A>C
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.29-44A>C
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.104-44A>C
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.104-44A>C
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.104-44A>C
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.104-44A>C
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.378A>C
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-611T>G
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.104-44A>C
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.104-44A>C
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.104-44A>C
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.104-44A>C
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.104-44A>C
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

19-18684431-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684431
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684431
    reference: chr 19
allele count: 6
allele frequency: 4.989273062914733e-5
allele num: 120258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.29-41A>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.104-41A>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.104-41A>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.104-41A>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.104-41A>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.104-41A>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.104-41A>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-614T>C
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.50-41A>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.104-41A>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.104-41A>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.381A>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.104-41A>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.104-41A>G
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.104-41A>G
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11119
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12991
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum

19-18684437-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684437
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684437
    reference: chr 19
allele count: 2
allele frequency: 1.663672056964131e-5
allele num: 120216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.104-35C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.104-35C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.104-35C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.104-35C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.104-35C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.104-35C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.387C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.104-35C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.50-35C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.104-35C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-620G>A
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.104-35C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.29-35C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.104-35C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.104-35C>T
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

19-18684438-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684438
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684438
    reference: chr 19
allele count: 5
allele frequency: 4.157520122397393e-5
allele num: 120264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.104-34G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.104-34G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.104-34G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.50-34G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.104-34G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.104-34G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.388G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.29-34G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.104-34G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.104-34G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.104-34G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.104-34G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-621C>T
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.104-34G>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.104-34G>A
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

19-18684457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684457
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684457
    reference: chr 19
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.50-15C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.104-15C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.29-15C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-640G>A
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.104-15C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.104-15C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.104-15C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.104-15C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.104-15C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.104-15C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.104-15C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.407C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.104-15C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.104-15C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.104-15C>T
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-18684459-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684459
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684459
    reference: chr 19
allele count: 2
allele frequency: 1.655464688938185e-5
allele num: 120812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.104-13C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.104-13C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.409C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.104-13C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.29-13C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.104-13C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.104-13C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.104-13C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.104-13C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.104-13C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.104-13C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.50-13C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.104-13C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-642G>A
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.104-13C>T
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-18684460-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684460
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684460
    reference: chr 19
allele count: 5
allele frequency: 4.137771230904186e-5
allele num: 120838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.104-12C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.104-12C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.410C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.104-12C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.104-12C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.104-12C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.104-12C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.104-12C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.104-12C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.104-12C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-643G>T
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.29-12C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.104-12C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.104-12C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.50-12C>A
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

19-18684463-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684463
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684463
    reference: chr 19
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.104-9C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.104-9C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.29-9C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-646G>A
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.104-9C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.104-9C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.104-9C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.413C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.104-9C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.104-9C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.104-9C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.104-9C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.104-9C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.50-9C>T
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.104-9C>T
  variant of: http://identifiers.org/hgnc/12458
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-18684467-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684467
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684467
    reference: chr 19
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.104-5C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.29-5C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.104-5C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.104-5C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.104-5C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.104-5C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.104-5C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.104-5C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.104-5C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-650G>T
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.104-5C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.104-5C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.50-5C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.417C>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.104-5C>A
  variant of: http://identifiers.org/hgnc/12458
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.104-5C>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

19-18684468-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684468
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684468
    reference: chr 19
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.418T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.104-4T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.104-4T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.104-4T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.104-4T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.29-4T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-651A>T
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.104-4T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.50-4T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.104-4T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.104-4T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.104-4T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.104-4T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.104-4T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.104-4T>A
  variant of: http://identifiers.org/hgnc/12458
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.104-4T>A
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: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-18684473-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 18684473
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 18684473
    reference: chr 19
allele count: 1
allele frequency: 8.255320554097116e-6
allele num: 121134
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471464
  ensembl transcript: ENST00000599595
  gene symbol: UBA52
  hgvsc: ENST00000599595.1:c.105T>A
  hgvsp: ENST00000599595.1:c.105T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221983
  ensembl transcript: ENST00000598814
  gene symbol: UBA52
  hgvsc: ENST00000598814.1:n.423T>A
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471062
  ensembl transcript: ENST00000596273
  gene symbol: UBA52
  hgvsc: ENST00000596273.1:c.105T>A
  hgvsp: ENST00000596273.1:c.105T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471991
  ensembl transcript: ENST00000594527
  gene symbol: UBA52
  hgvsc: ENST00000594527.1:c.30T>A
  hgvsp: ENST00000594527.1:c.30T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470419
  ensembl transcript: ENST00000595683
  gene symbol: UBA52
  hgvsc: ENST00000595683.1:c.105T>A
  hgvsp: ENST00000595683.1:c.105T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000396910
  ensembl transcript: ENST00000430157
  gene symbol: UBA52
  hgvsc: ENST00000430157.2:c.105T>A
  hgvsp: ENST00000430157.2:c.105T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472545
  ensembl transcript: ENST00000598780
  gene symbol: UBA52
  hgvsc: ENST00000598780.1:c.105T>A
  hgvsp: ENST00000598780.1:c.105T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000470507
  ensembl transcript: ENST00000599551
  gene symbol: UBA52
  hgvsc: ENST00000599551.1:c.105T>A
  hgvsp: ENST00000599551.1:c.105T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472768
  ensembl transcript: ENST00000596272
  gene symbol: UBA52
  hgvsc: ENST00000596272.1:c.51T>A
  hgvsp: ENST00000596272.1:c.51T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472137
  ensembl transcript: ENST00000599256
  gene symbol: UBA52
  hgvsc: ENST00000599256.1:c.105T>A
  hgvsp: ENST00000599256.1:c.105T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000388107
  ensembl transcript: ENST00000442744
  gene symbol: UBA52
  hgvsc: ENST00000442744.2:c.105T>A
  hgvsp: ENST00000442744.2:c.105T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000006016
  ensembl transcript: ENST00000594325
  gene symbol: CRLF1
  hgvsc: ENST00000594325.1:n.233-656A>T
  variant of: http://identifiers.org/hgnc/2364
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000471622
  ensembl transcript: ENST00000595158
  gene symbol: UBA52
  hgvsc: ENST00000595158.1:c.105T>A
  hgvsp: ENST00000595158.1:c.105T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000473048
  ensembl transcript: ENST00000597451
  gene symbol: UBA52
  hgvsc: ENST00000597451.1:c.105T>A
  hgvsp: ENST00000597451.1:c.105T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221983
  ensembl protein: ENSP00000472264
  ensembl transcript: ENST00000596304
  gene symbol: UBA52
  hgvsc: ENST00000596304.1:c.105T>A
  hgvsp: ENST00000596304.1:c.105T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12458
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.105T>A
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

GenotypeQuality
all individuals: 1069
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 2.336e0

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

DP
type: SiteQuality
SIO_000300: 1.569427e6

GenotypeQuality
all individuals: 3186
bin: 9.75e1
variant carriers: 6

African
type: Population
allele count: 4
allele frequency: 3.845414343395501e-4
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
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: 906
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

DP
type: SiteQuality
SIO_000300: 1.569936e6

QD
type: SiteQuality
SIO_000300: 1.373e1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

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East Asian
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European (Finnish)
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VQSLOD
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MQ
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DP
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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South Asian
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FS
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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Latino
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South Asian
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European (Finnish)
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Other
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MQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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FS
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VQSLOD
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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Other
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East Asian
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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MQ
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VQSLOD
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QD
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GenotypeQuality
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeQuality
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South Asian
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Latino
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African
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European (Finnish)
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East Asian
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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MQ
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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MQ
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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ReadPosRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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Latino
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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MQ
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VQSLOD
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DP
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QD
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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South Asian
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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MQ
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InbreedingCoeff
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FS
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DP
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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East Asian
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European (Finnish)
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MQ
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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MQRankSum
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DP
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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InbreedingCoeff
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FS
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QD
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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DP
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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FS
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SIO_000300: 5.79e-1

DP
type: SiteQuality
SIO_000300: 1.56954e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.89e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

Latino
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Other
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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African
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ReadPosRankSum
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QD
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FS
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

Other
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African
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allele frequency: 9.617234083477592e-5
allele num: 10398
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.49734656552634e-5
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BaseQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.569419e6

GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8650
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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FS
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MQ
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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QD
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BaseQRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8650
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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Latino
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Other
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South Asian
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European (Non-Finnish)
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allele num: 66704
num of homozygotes: 0

QD
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MQ
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SIO_000300: 5.985e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.499160470136723e-5
allele num: 66704
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Latino
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Other
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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QD
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ClippingRankSum
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BaseQRankSum
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
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SIO_000300: 1.568846e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

GenotypeQuality
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variant carriers: 0

South Asian
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Latino
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
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African
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.568442e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.04e-1

InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
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variant carriers: 0

European (Finnish)
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African
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allele frequency: 2.433628318584071e-2
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European (Non-Finnish)
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allele frequency: 1.694254528007677e-3
allele num: 66696
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East Asian
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South Asian
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Latino
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allele frequency: 1.641326883206634e-3
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Other
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FS
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DP
type: SiteQuality
SIO_000300: 1.598672e6

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

African
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Other
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European (Non-Finnish)
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allele num: 66696
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East Asian
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South Asian
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Latino
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European (Finnish)
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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FS
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DP
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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Latino
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African
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South Asian
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Other
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East Asian
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European (Finnish)
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQ
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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GenotypeQuality
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African
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South Asian
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Latino
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Other
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East Asian
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European (Non-Finnish)
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European (Finnish)
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QD
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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FS
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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VQSLOD
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ClippingRankSum
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European (Non-Finnish)
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African
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Latino
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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MQ
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DP
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FS
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ReadPosRankSum
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
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QD
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South Asian
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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FS
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ClippingRankSum
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QD
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MQ
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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FS
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QD
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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MQRankSum
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VQSLOD
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FS
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MQ
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ClippingRankSum
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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South Asian
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East Asian
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African
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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DP
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FS
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InbreedingCoeff
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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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South Asian
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MQRankSum
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QD
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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VQSLOD
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FS
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QD
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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QD
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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South Asian
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African
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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QD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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GenotypeQuality
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European (Non-Finnish)
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MQRankSum
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QD
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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African
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InbreedingCoeff
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BaseQRankSum
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FS
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VQSLOD
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DP
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MQRankSum
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MQ
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GenotypeQuality
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African
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European (Non-Finnish)
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MQRankSum
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.596175e6

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 642
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.453e0

DP
type: SiteQuality
SIO_000300: 1.596222e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.429e0

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.336e1

GenotypeDepth
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 189
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.724480893386844e-5
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.085e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

QD
type: SiteQuality
SIO_000300: 1.16e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

DP
type: SiteQuality
SIO_000300: 1.647157e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45633
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 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: 66594
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.926040061633282e-4
allele num: 10384
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.285e1

DP
type: SiteQuality
SIO_000300: 1.654044e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.806e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

FS
type: SiteQuality
SIO_000300: 7.225e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

GenotypeDepth
all individuals: 79
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.657306e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.742e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

FS
type: SiteQuality
SIO_000300: 1.149e0

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-2

GenotypeDepth
all individuals: 250
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 239
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variant carriers: 0

GenotypeDepth
all individuals: 767
bin: 4.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 302
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 153
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.354e0

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

FS
type: SiteQuality
SIO_000300: 1.643e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.654777e6

QD
type: SiteQuality
SIO_000300: 9.91e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 189
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variant carriers: 0

GenotypeDepth
all individuals: 1516
bin: 3.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

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

Latino
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allele count: 0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.506e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.19e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.649509e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.61e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507249871883761e-5
allele num: 66346
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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MQRankSum
type: SiteQuality
SIO_000300: -1.138e0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.77e0

VQSLOD
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SIO_000300: 1.55e-1

FS
type: SiteQuality
SIO_000300: 4.27e-1

InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.902e1

QD
type: SiteQuality
SIO_000300: 1.302e1

DP
type: SiteQuality
SIO_000300: 1.646458e6

ReadPosRankSum
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SIO_000300: 1.0e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

Other
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allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

Latino
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allele frequency: 2.692998204667863e-4
allele num: 11140
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65424
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African
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allele count: 3
allele frequency: 2.97441998810232e-4
allele num: 10086
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.353e0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.678242286630158e-5
allele num: 14974
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 3.112e0

MQRankSum
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SIO_000300: -5.8e-2

BaseQRankSum
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SIO_000300: -2.144e0

MQ
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SIO_000300: 5.878e1

DP
type: SiteQuality
SIO_000300: 1.246922e6

ClippingRankSum
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SIO_000300: 7.76e-1

ReadPosRankSum
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SIO_000300: -5.21e-1

InbreedingCoeff
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SIO_000300: -9.0e-4

VQSLOD
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SIO_000300: -6.786e-1

QD
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SIO_000300: 1.126e1

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

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

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

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

Other
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Latino
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MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

MQ
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VQSLOD
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ClippingRankSum
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FS
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SIO_000300: 3.924e0

ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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Latino
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South Asian
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Other
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European (Finnish)
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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South Asian
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DP
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ReadPosRankSum
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MQ
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FS
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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SIO_000300: -5.17e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7252
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.80635838150289e-4
allele num: 5536
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.487e0

DP
type: SiteQuality
SIO_000300: 1.138013e6

MQRankSum
type: SiteQuality
SIO_000300: 8.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14308
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.461133839859731e-4
allele num: 6844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5490
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.119038e6

VQSLOD
type: SiteQuality
SIO_000300: 9.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.174e1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 751
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variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.077870673290521e-5
allele num: 49518
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 5.661e0

DP
type: SiteQuality
SIO_000300: 1.068111e6

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.02e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.371e1

GenotypeDepth
all individuals: 11080
bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 240
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507977199384745e-5
allele num: 66314
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15820
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.093938e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

FS
type: SiteQuality
SIO_000300: 1.022e0

MQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.62e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

GenotypeDepth
all individuals: 1755
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507704369327262e-5
allele num: 66326
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.427e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.688e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

QD
type: SiteQuality
SIO_000300: 4.01e0

DP
type: SiteQuality
SIO_000300: 2.094845e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.57e-1

BaseQRankSum
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SIO_000300: 3.42e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
all individuals: 55
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variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.523659305993691e-4
allele num: 15850
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015772490123345e-5
allele num: 66318
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

QD
type: SiteQuality
SIO_000300: 1.507e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.09784e6

FS
type: SiteQuality
SIO_000300: 8.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

GenotypeDepth
all individuals: 109
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 4567
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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ClippingRankSum
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DP
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VQSLOD
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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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South Asian
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East Asian
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Latino
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European (Finnish)
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DP
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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Latino
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European (Non-Finnish)
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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QD
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DP
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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FS
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VQSLOD
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DP
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MQRankSum
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QD
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InbreedingCoeff
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East Asian
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African
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South Asian
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MQRankSum
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MQ
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QD
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DP
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GenotypeQuality
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African
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East Asian
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MQ
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.112469437652811e-5
allele num: 16360
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

DP
type: SiteQuality
SIO_000300: 2.142395e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.11e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

MQ
type: SiteQuality
SIO_000300: 5.863e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.255e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 1.75e0

MQRankSum
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SIO_000300: 6.4e-2

ClippingRankSum
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SIO_000300: -3.7e-1

VQSLOD
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SIO_000300: 7.11e-1

ReadPosRankSum
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SIO_000300: 1.58e0

InbreedingCoeff
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SIO_000300: -2.0e-4

DP
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SIO_000300: 2.142664e6

QD
type: SiteQuality
SIO_000300: 1.083e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18400
bin: 9.75e1
variant carriers: 1

African
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allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

MQ
type: SiteQuality
SIO_000300: 5.816e1

VQSLOD
type: SiteQuality
SIO_000300: -5.302e0

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
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SIO_000300: -3.009e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.144515e6

BaseQRankSum
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SIO_000300: 4.41e0

QD
type: SiteQuality
SIO_000300: 1.185e1