17-19093486-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19093486
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19093487
    reference: chr 17
allele count: 1
allele frequency: 1.440922190201729e-3
allele num: 694
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264940
  ensembl transcript: ENST00000580533
  gene symbol: SNORD3C
  hgvsc: ENST00000580533.1:n.72_73insT
  variant of: http://identifiers.org/hgnc/33191
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264940
  ensembl transcript: ENST00000362428
  gene symbol: SNORD3C
  hgvsc: ENST00000362428.1:n.72_73insT
  variant of: http://identifiers.org/hgnc/33191
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-19093493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19093493
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19093493
    reference: chr 17
allele count: 2
allele frequency: 2.881844380403458e-3
allele num: 694
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264940
  ensembl transcript: ENST00000580533
  gene symbol: SNORD3C
  hgvsc: ENST00000580533.1:n.66G>A
  variant of: http://identifiers.org/hgnc/33191
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264940
  ensembl transcript: ENST00000362428
  gene symbol: SNORD3C
  hgvsc: ENST00000362428.1:n.66G>A
  variant of: http://identifiers.org/hgnc/33191
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

17-19093500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19093500
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19093500
    reference: chr 17
allele count: 2
allele frequency: 2.898550724637681e-3
allele num: 690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264940
  ensembl transcript: ENST00000362428
  gene symbol: SNORD3C
  hgvsc: ENST00000362428.1:n.59G>A
  variant of: http://identifiers.org/hgnc/33191
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264940
  ensembl transcript: ENST00000580533
  gene symbol: SNORD3C
  hgvsc: ENST00000580533.1:n.59G>A
  variant of: http://identifiers.org/hgnc/33191
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 42
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/17-19093536-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19093536
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19093536
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 16
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264940
  ensembl transcript: ENST00000362428
  gene symbol: SNORD3C
  hgvsc: ENST00000362428.1:n.23T>G
  variant of: http://identifiers.org/hgnc/33191
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000264940
  ensembl transcript: ENST00000580533
  gene symbol: SNORD3C
  hgvsc: ENST00000580533.1:n.23T>G
  variant of: http://identifiers.org/hgnc/33191
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

17-19093570-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19093570
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19093570
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: C
canonical: true
consequence: upstream gene
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

17-19093571-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19093571
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19093571
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: T
canonical: true
consequence: upstream gene
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

17-19093594-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19093594
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19093594
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: T
canonical: true
consequence: upstream gene
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS

17-19186383-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186383
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186383
    reference: chr 17
allele count: 2
allele frequency: 2.218721572629851e-5
allele num: 90142
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.-50G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.-50G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.244G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.-50G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26815G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26815G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.-50G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000582234
  gene symbol: EPN2
  hgvsc: ENST00000582234.1:n.516G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000582969
  gene symbol: EPN2
  hgvsc: ENST00000582969.1:n.279G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26815G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26815G>C
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

17-19186387-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186387
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186387
    reference: chr 17
allele count: 2
allele frequency: 2.212927924937485e-5
allele num: 90378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.-46G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.-46G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.-46G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.-46G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.-46G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000582234
  gene symbol: EPN2
  hgvsc: ENST00000582234.1:n.520G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.-46G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26811G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.-46G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.-46G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.-46G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.248G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.-46G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.-46G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26811G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000582969
  gene symbol: EPN2
  hgvsc: ENST00000582969.1:n.283G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26811G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.-46G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.-46G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26811G>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.-46G>C
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

17-19186393-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186393
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186393
    reference: chr 17
allele count: 1
allele frequency: 1.100400545798671e-5
allele num: 90876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26805C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000582234
  gene symbol: EPN2
  hgvsc: ENST00000582234.1:n.526C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26805C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.254C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.-40C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.-40C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26805C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26805C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.-40C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.-40C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.-40C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000582969
  gene symbol: EPN2
  hgvsc: ENST00000582969.1:n.289C>G
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-19186401-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186401
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186401
    reference: chr 17
allele count: 2
allele frequency: 2.165908598657137e-5
allele num: 92340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000582234
  gene symbol: EPN2
  hgvsc: ENST00000582234.1:n.534A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.-32A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.-32A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26797A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.-32A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.-32A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.-32A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26797A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26797A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.-32A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.262A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.-32A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000582969
  gene symbol: EPN2
  hgvsc: ENST00000582969.1:n.297A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.-32A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.-32A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.-32A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.-32A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26797A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.-32A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.-32A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.-32A>T
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-19186407-TTAAACTTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186407
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186399
    reference: chr 17
allele count: 1
allele frequency: 1.050089257586895e-5
allele num: 95230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.-22_-15delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.-22_-15delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.-22_-15delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.-22_-15delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.-22_-15delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.-22_-15delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.-22_-15delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.-22_-15delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.-22_-15delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000582969
  gene symbol: EPN2
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.-22_-15delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.-22_-15delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.-22_-15delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.272_279delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.-22_-15delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.-22_-15delACTTATAA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: TTAAACTTA
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

17-19186414-TATAAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186414
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186409
    reference: chr 17
allele count: 1
allele frequency: 1.000840706193202e-5
allele num: 99916
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.-17_-13delTAACA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.-17_-13delTAACA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.-17_-13delTAACA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.-17_-13delTAACA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.277_281delTAACA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.-17_-13delTAACA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.-17_-13delTAACA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.-17_-13delTAACA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.-17_-13delTAACA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.-17_-13delTAACA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.-17_-13delTAACA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.-17_-13delTAACA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.-17_-13delTAACA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.-17_-13delTAACA
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.-17_-13delTAACA
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: TATAAC
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

17-19186416-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186416
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186416
    reference: chr 17
allele count: 4
allele frequency: 3.946018467366427e-5
allele num: 101368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.-17T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.-17T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26782T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.-17T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.-17T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.-17T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.-17T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.-17T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.-17T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26782T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.-17T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26782T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.-17T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.-17T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26782T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.-17T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.-17T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.-17T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.277T>A
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7473
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-19186416-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186416
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186416
    reference: chr 17
allele count: 4
allele frequency: 3.946018467366427e-5
allele num: 101368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26782T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26782T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.-17T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.-17T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.-17T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.-17T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.277T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26782T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.-17T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26782T>C
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

17-19186417-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186417
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186417
    reference: chr 17
allele count: 1
allele frequency: 9.775171065493646e-6
allele num: 102300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.-16A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.-16A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.-16A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.-16A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.-16A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26781A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26781A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.-16A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.-16A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.-16A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.-16A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.-16A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.-16A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.-16A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26781A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.278A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.-16A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26781A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.-16A>G
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

17-19186418-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186418
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186418
    reference: chr 17
allele count: 1
allele frequency: 9.683916950728231e-6
allele num: 103264
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.-15A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.-15A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.-15A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.-15A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26780A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.-15A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.-15A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.-15A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.-15A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.-15A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.-15A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.-15A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.279A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26780A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26780A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26780A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.-15A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.-15A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.-15A>G
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

17-19186423-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186423
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186423
    reference: chr 17
allele count: 1
allele frequency: 9.300941255255032e-6
allele num: 107516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26775G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.284G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.-10G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.-10G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.-10G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26775G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26775G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.-10G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.-10G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26775G>A
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8467
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-19186429-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186429
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186429
    reference: chr 17
allele count: 1
allele frequency: 8.967162251833785e-6
allele num: 111518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.-4A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26769A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.290A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.-4A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.-4A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26769A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.-4A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.-4A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.-4A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.-4A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.-4A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.-4A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.-4A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26769A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26769A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.-4A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.-4A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.-4A>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.-4A>T
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-19186437-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186437
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186437
    reference: chr 17
allele count: 2
allele frequency: 1.72102228723862e-5
allele num: 116210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26761C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.5C>T
  hgvsp: ENSP00000462606.1:p.Thr2Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.5C>T
  hgvsp: ENSP00000320543.5:p.Thr2Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.5C>T
  hgvsp: ENSP00000378988.1:p.Thr2Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.5C>T
  hgvsp: ENSP00000462426.1:p.Thr2Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.5C>T
  hgvsp: ENSP00000261495.3:p.Thr2Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.5C>T
  hgvsp: ENSP00000462465.1:p.Thr2Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.5C>T
  hgvsp: ENSP00000463627.1:p.Thr2Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.5C>T
  hgvsp: ENSP00000462958.1:p.Thr2Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.5C>T
  hgvsp: ENSP00000463141.1:p.Thr2Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26761C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.5C>T
  hgvsp: ENSP00000459542.1:p.Thr2Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.5C>T
  hgvsp: ENSP00000378990.2:p.Thr2Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.298C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.5C>T
  hgvsp: ENSP00000378982.2:p.Thr2Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.5C>T
  hgvsp: ENSP00000464206.1:p.Thr2Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26761C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26761C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.5C>T
  hgvsp: ENSP00000462392.1:p.Thr2Met
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr2Met
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

17-19186441-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186441
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186441
    reference: chr 17
allele count: 1
allele frequency: 8.429428821903027e-6
allele num: 118632
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.9T>G
  hgvsp: ENST00000584707.1:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.9T>G
  hgvsp: ENST00000395626.1:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.9T>G
  hgvsp: ENST00000581024.1:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.9T>G
  hgvsp: ENST00000347697.2:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.9T>G
  hgvsp: ENST00000314728.5:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.9T>G
  hgvsp: ENST00000395620.2:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.302T>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26757T>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.9T>G
  hgvsp: ENST00000571254.1:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.9T>G
  hgvsp: ENST00000583197.1:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.9T>G
  hgvsp: ENST00000584633.1:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.9T>G
  hgvsp: ENST00000582015.1:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26757T>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26757T>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.9T>G
  hgvsp: ENST00000395628.2:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26757T>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.9T>G
  hgvsp: ENST00000577195.1:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.9T>G
  hgvsp: ENST00000584150.1:c.9T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr3Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-19186444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186444
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186444
    reference: chr 17
allele count: 1
allele frequency: 8.363022061652199e-6
allele num: 119574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.12G>A
  hgvsp: ENST00000577692.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.12G>A
  hgvsp: ENST00000581024.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.12G>A
  hgvsp: ENST00000583197.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.12G>A
  hgvsp: ENST00000584633.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26754G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.12G>A
  hgvsp: ENST00000347697.2:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.12G>A
  hgvsp: ENST00000571254.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26754G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.12G>A
  hgvsp: ENST00000584707.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.12G>A
  hgvsp: ENST00000395628.2:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.305G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.12G>A
  hgvsp: ENST00000395626.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.12G>A
  hgvsp: ENST00000314728.5:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.12G>A
  hgvsp: ENST00000582015.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26754G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.12G>A
  hgvsp: ENST00000395620.2:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26754G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.12G>A
  hgvsp: ENST00000584150.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.12G>A
  hgvsp: ENST00000577195.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser4Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

17-19186446-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186446
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186446
    reference: chr 17
allele count: 1
allele frequency: 8.342927700188551e-6
allele num: 119862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.14C>T
  hgvsp: ENSP00000459542.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.14C>T
  hgvsp: ENSP00000320543.5:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.14C>T
  hgvsp: ENSP00000462958.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.14C>T
  hgvsp: ENSP00000378990.2:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.14C>T
  hgvsp: ENSP00000462606.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26752C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.14C>T
  hgvsp: ENSP00000378988.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.14C>T
  hgvsp: ENSP00000462426.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26752C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.14C>T
  hgvsp: ENSP00000463141.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.14C>T
  hgvsp: ENSP00000378982.2:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.14C>T
  hgvsp: ENSP00000462465.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.14C>T
  hgvsp: ENSP00000463627.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.14C>T
  hgvsp: ENSP00000261495.3:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26752C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26752C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.14C>T
  hgvsp: ENSP00000462392.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.307C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.14C>T
  hgvsp: ENSP00000464206.1:p.Ser5Phe
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser5Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS

17-19186447-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186447
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186447
    reference: chr 17
allele count: 1
allele frequency: 8.331250520703158e-6
allele num: 120030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.15T>C
  hgvsp: ENST00000571254.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.15T>C
  hgvsp: ENST00000581024.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.15T>C
  hgvsp: ENST00000395620.2:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.15T>C
  hgvsp: ENST00000347697.2:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.308T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.15T>C
  hgvsp: ENST00000584707.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26751T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.15T>C
  hgvsp: ENST00000577195.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26751T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.15T>C
  hgvsp: ENST00000582015.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.15T>C
  hgvsp: ENST00000395626.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.15T>C
  hgvsp: ENST00000583197.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.15T>C
  hgvsp: ENST00000395628.2:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.15T>C
  hgvsp: ENST00000577692.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.15T>C
  hgvsp: ENST00000314728.5:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.15T>C
  hgvsp: ENST00000584150.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26751T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26751T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.15T>C
  hgvsp: ENST00000584633.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser5Ser
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

17-19186448-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186448
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186448
    reference: chr 17
allele count: 19
allele frequency: 1.581988642986795e-4
allele num: 120102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26750A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.16A>G
  hgvsp: ENSP00000378990.2:p.Ile6Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.309A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.16A>G
  hgvsp: ENSP00000378982.2:p.Ile6Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.16A>G
  hgvsp: ENSP00000464206.1:p.Ile6Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.16A>G
  hgvsp: ENSP00000462426.1:p.Ile6Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26750A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.16A>G
  hgvsp: ENSP00000261495.3:p.Ile6Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.16A>G
  hgvsp: ENSP00000320543.5:p.Ile6Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.16A>G
  hgvsp: ENSP00000462606.1:p.Ile6Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.16A>G
  hgvsp: ENSP00000462958.1:p.Ile6Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.16A>G
  hgvsp: ENSP00000459542.1:p.Ile6Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.16A>G
  hgvsp: ENSP00000462465.1:p.Ile6Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.16A>G
  hgvsp: ENSP00000463627.1:p.Ile6Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26750A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.16A>G
  hgvsp: ENSP00000462392.1:p.Ile6Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.16A>G
  hgvsp: ENSP00000463141.1:p.Ile6Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26750A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.16A>G
  hgvsp: ENSP00000378988.1:p.Ile6Val
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile6Val
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

17-19186454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186454
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186454
    reference: chr 17
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.22C>T
  hgvsp: ENSP00000462465.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.22C>T
  hgvsp: ENSP00000462606.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.22C>T
  hgvsp: ENSP00000463141.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.22C>T
  hgvsp: ENSP00000459542.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.22C>T
  hgvsp: ENSP00000378990.2:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.22C>T
  hgvsp: ENSP00000464206.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26744C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.22C>T
  hgvsp: ENSP00000378982.2:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.22C>T
  hgvsp: ENSP00000462426.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.22C>T
  hgvsp: ENSP00000462392.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.22C>T
  hgvsp: ENSP00000261495.3:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.22C>T
  hgvsp: ENSP00000462958.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.22C>T
  hgvsp: ENSP00000463627.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.22C>T
  hgvsp: ENSP00000378988.1:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26744C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.22C>T
  hgvsp: ENSP00000320543.5:p.Arg8Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26744C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26744C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.315C>T
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg8Trp
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

17-19186456-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186456
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186456
    reference: chr 17
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.24G>A
  hgvsp: ENST00000395626.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.24G>A
  hgvsp: ENST00000577692.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.24G>A
  hgvsp: ENST00000395628.2:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.24G>A
  hgvsp: ENST00000581024.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26742G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.24G>A
  hgvsp: ENST00000582015.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.24G>A
  hgvsp: ENST00000583197.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.24G>A
  hgvsp: ENST00000347697.2:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.24G>A
  hgvsp: ENST00000395620.2:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.24G>A
  hgvsp: ENST00000584633.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26742G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.24G>A
  hgvsp: ENST00000314728.5:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.317G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.24G>A
  hgvsp: ENST00000571254.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.24G>A
  hgvsp: ENST00000584707.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.24G>A
  hgvsp: ENST00000577195.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.24G>A
  hgvsp: ENST00000584150.1:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26742G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26742G>A
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg8Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-19186459-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186459
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186459
    reference: chr 17
allele count: 2
allele frequency: 1.654287084980728e-5
allele num: 120898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.27G>A
  hgvsp: ENST00000395626.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.27G>A
  hgvsp: ENST00000395628.2:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.27G>A
  hgvsp: ENST00000584707.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.27G>A
  hgvsp: ENST00000577692.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.27G>A
  hgvsp: ENST00000581024.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26739G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.27G>A
  hgvsp: ENST00000583197.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.27G>A
  hgvsp: ENST00000314728.5:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.27G>A
  hgvsp: ENST00000347697.2:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.27G>A
  hgvsp: ENST00000571254.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26739G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.27G>A
  hgvsp: ENST00000584633.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.27G>A
  hgvsp: ENST00000582015.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.27G>A
  hgvsp: ENST00000584150.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.27G>A
  hgvsp: ENST00000577195.1:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26739G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26739G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.320G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.27G>A
  hgvsp: ENST00000395620.2:c.27G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln9Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

17-19186471-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186471
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186471
    reference: chr 17
allele count: 2
allele frequency: 1.650927821435647e-5
allele num: 121144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.39C>G
  hgvsp: ENSP00000462392.1:p.Ile13Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26727C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.39C>G
  hgvsp: ENSP00000463627.1:p.Ile13Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.39C>G
  hgvsp: ENSP00000459542.1:p.Ile13Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.39C>G
  hgvsp: ENSP00000462426.1:p.Ile13Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.39C>G
  hgvsp: ENSP00000462958.1:p.Ile13Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.39C>G
  hgvsp: ENSP00000463141.1:p.Ile13Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.39C>G
  hgvsp: ENSP00000464206.1:p.Ile13Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26727C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.39C>G
  hgvsp: ENSP00000378990.2:p.Ile13Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.39C>G
  hgvsp: ENSP00000261495.3:p.Ile13Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.39C>G
  hgvsp: ENSP00000462465.1:p.Ile13Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.39C>G
  hgvsp: ENSP00000320543.5:p.Ile13Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.39C>G
  hgvsp: ENSP00000462606.1:p.Ile13Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.39C>G
  hgvsp: ENSP00000378982.2:p.Ile13Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26727C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.39C>G
  hgvsp: ENSP00000378988.1:p.Ile13Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.332C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26727C>G
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile13Met
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

17-19186471-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186471
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186471
    reference: chr 17
allele count: 3
allele frequency: 2.47639173215347e-5
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.39C>T
  hgvsp: ENST00000584633.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.39C>T
  hgvsp: ENST00000584707.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.39C>T
  hgvsp: ENST00000571254.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26727C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.39C>T
  hgvsp: ENST00000577692.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26727C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.39C>T
  hgvsp: ENST00000584150.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.39C>T
  hgvsp: ENST00000582015.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.39C>T
  hgvsp: ENST00000314728.5:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.39C>T
  hgvsp: ENST00000395620.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.39C>T
  hgvsp: ENST00000395628.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.39C>T
  hgvsp: ENST00000395626.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26727C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.39C>T
  hgvsp: ENST00000581024.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.39C>T
  hgvsp: ENST00000577195.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.332C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.39C>T
  hgvsp: ENST00000583197.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.39C>T
  hgvsp: ENST00000347697.2:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26727C>T
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile13Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-19186489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186489
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186489
    reference: chr 17
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.57G>A
  hgvsp: ENST00000395626.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.57G>A
  hgvsp: ENST00000571254.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26709G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.57G>A
  hgvsp: ENST00000584633.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.57G>A
  hgvsp: ENST00000584150.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.57G>A
  hgvsp: ENST00000581024.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.57G>A
  hgvsp: ENST00000577195.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26709G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.57G>A
  hgvsp: ENST00000395620.2:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.57G>A
  hgvsp: ENST00000584707.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.350G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.57G>A
  hgvsp: ENST00000395628.2:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26709G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.57G>A
  hgvsp: ENST00000577692.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26709G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.57G>A
  hgvsp: ENST00000347697.2:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.57G>A
  hgvsp: ENST00000314728.5:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.57G>A
  hgvsp: ENST00000582015.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.57G>A
  hgvsp: ENST00000583197.1:c.57G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu19Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-19186490-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186490
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186490
    reference: chr 17
allele count: 3
allele frequency: 2.473329266080762e-5
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.58G>T
  hgvsp: ENSP00000462392.1:p.Ala20Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.58G>T
  hgvsp: ENSP00000378982.2:p.Ala20Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463141
  ensembl transcript: ENST00000583197
  gene symbol: EPN2
  hgvsc: ENST00000583197.1:c.58G>T
  hgvsp: ENSP00000463141.1:p.Ala20Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.58G>T
  hgvsp: ENSP00000459542.1:p.Ala20Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462606
  ensembl transcript: ENST00000584150
  gene symbol: EPN2
  hgvsc: ENST00000584150.1:c.58G>T
  hgvsp: ENSP00000462606.1:p.Ala20Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.58G>T
  hgvsp: ENSP00000462958.1:p.Ala20Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.58G>T
  hgvsp: ENSP00000378990.2:p.Ala20Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.58G>T
  hgvsp: ENSP00000261495.3:p.Ala20Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.58G>T
  hgvsp: ENSP00000462426.1:p.Ala20Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26708G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.58G>T
  hgvsp: ENSP00000320543.5:p.Ala20Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.58G>T
  hgvsp: ENSP00000462465.1:p.Ala20Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26708G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26708G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26708G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.58G>T
  hgvsp: ENSP00000464206.1:p.Ala20Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.58G>T
  hgvsp: ENSP00000378988.1:p.Ala20Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.58G>T
  hgvsp: ENSP00000463627.1:p.Ala20Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.351G>T
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala20Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-19186506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186506
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186506
    reference: chr 17
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.74G>A
  hgvsp: ENSP00000462392.1:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26692G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26692G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.74G>A
  hgvsp: ENSP00000464206.1:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.367G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.74G>A
  hgvsp: ENSP00000459542.1:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.74G>A
  hgvsp: ENSP00000462426.1:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.74G>A
  hgvsp: ENSP00000462958.1:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.74G>A
  hgvsp: ENSP00000261495.3:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.74G>A
  hgvsp: ENSP00000378988.1:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.74G>A
  hgvsp: ENSP00000462465.1:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26692G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.74G>A
  hgvsp: ENSP00000378982.2:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.74G>A
  hgvsp: ENSP00000378990.2:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26692G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.74G>A
  hgvsp: ENSP00000463627.1:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.74G>A
  hgvsp: ENSP00000320543.5:p.Arg25Gln
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg25Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-19186511-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186511
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186511
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.79G>T
  hgvsp: ENSP00000463627.1:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.79G>T
  hgvsp: ENSP00000378988.1:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.79G>T
  hgvsp: ENSP00000459542.1:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26687G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26687G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.79G>T
  hgvsp: ENSP00000462958.1:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.79G>T
  hgvsp: ENSP00000462392.1:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.79G>T
  hgvsp: ENSP00000464206.1:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26687G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.79G>T
  hgvsp: ENSP00000462426.1:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.79G>T
  hgvsp: ENSP00000462465.1:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.79G>T
  hgvsp: ENSP00000261495.3:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.79G>T
  hgvsp: ENSP00000378990.2:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.79G>T
  hgvsp: ENSP00000378982.2:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26687G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.372G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.79G>T
  hgvsp: ENSP00000320543.5:p.Ala27Ser
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala27Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

17-19186521-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186521
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186521
    reference: chr 17
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.89A>G
  hgvsp: ENSP00000462465.1:p.Asn30Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.89A>G
  hgvsp: ENSP00000462392.1:p.Asn30Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.89A>G
  hgvsp: ENSP00000378988.1:p.Asn30Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.382A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.89A>G
  hgvsp: ENSP00000462958.1:p.Asn30Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26677A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.89A>G
  hgvsp: ENSP00000261495.3:p.Asn30Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.89A>G
  hgvsp: ENSP00000462426.1:p.Asn30Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.89A>G
  hgvsp: ENSP00000378982.2:p.Asn30Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.89A>G
  hgvsp: ENSP00000463627.1:p.Asn30Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26677A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.89A>G
  hgvsp: ENSP00000378990.2:p.Asn30Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.89A>G
  hgvsp: ENSP00000459542.1:p.Asn30Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26677A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26677A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.89A>G
  hgvsp: ENSP00000320543.5:p.Asn30Ser
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.89A>G
  hgvsp: ENSP00000464206.1:p.Asn30Ser
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn30Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

17-19186527-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186527
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186527
    reference: chr 17
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.95C>T
  hgvsp: ENSP00000463627.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.95C>T
  hgvsp: ENSP00000459542.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26671C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.95C>T
  hgvsp: ENSP00000378990.2:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.95C>T
  hgvsp: ENSP00000378982.2:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.388C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.95C>T
  hgvsp: ENSP00000462392.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.95C>T
  hgvsp: ENSP00000462958.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.95C>T
  hgvsp: ENSP00000462426.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.95C>T
  hgvsp: ENSP00000464206.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26671C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.95C>T
  hgvsp: ENSP00000378988.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26671C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.95C>T
  hgvsp: ENSP00000320543.5:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26671C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462465
  ensembl transcript: ENST00000582015
  gene symbol: EPN2
  hgvsc: ENST00000582015.1:c.95C>T
  hgvsp: ENSP00000462465.1:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.95C>T
  hgvsp: ENSP00000261495.3:p.Pro32Leu
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10862
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro32Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

17-19186537-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186537
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186537
    reference: chr 17
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26661G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.105G>T
  hgvsp: ENST00000395626.1:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.105G>T
  hgvsp: ENST00000314728.5:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.398G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.105G>T
  hgvsp: ENST00000584633.1:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.105G>T
  hgvsp: ENST00000347697.2:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.105G>T
  hgvsp: ENST00000577195.1:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26661G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.105G>T
  hgvsp: ENST00000395620.2:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.105G>T
  hgvsp: ENST00000577692.1:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.105G>T
  hgvsp: ENST00000395628.2:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.105G>T
  hgvsp: ENST00000571254.1:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.105G>T
  hgvsp: ENST00000581024.1:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.105G>T
  hgvsp: ENST00000584707.1:c.105G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26661G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26661G>T
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro35Pro
num of homozygotes: 1
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-19186541-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186541
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186541
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26657A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.402A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.109A>G
  hgvsp: ENSP00000378982.2:p.Ser37Gly
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.109A>G
  hgvsp: ENSP00000261495.3:p.Ser37Gly
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.109A>G
  hgvsp: ENSP00000320543.5:p.Ser37Gly
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.109A>G
  hgvsp: ENSP00000462392.1:p.Ser37Gly
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462958
  ensembl transcript: ENST00000581024
  gene symbol: EPN2
  hgvsc: ENST00000581024.1:c.109A>G
  hgvsp: ENSP00000462958.1:p.Ser37Gly
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.109A>G
  hgvsp: ENSP00000462426.1:p.Ser37Gly
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.109A>G
  hgvsp: ENSP00000464206.1:p.Ser37Gly
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.109A>G
  hgvsp: ENSP00000378990.2:p.Ser37Gly
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26657A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.109A>G
  hgvsp: ENSP00000459542.1:p.Ser37Gly
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26657A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26657A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.109A>G
  hgvsp: ENSP00000378988.1:p.Ser37Gly
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.109A>G
  hgvsp: ENSP00000463627.1:p.Ser37Gly
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser37Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-19186547-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186547
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186547
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.115C>A
  hgvsp: ENSP00000378988.1:p.Leu39Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26651C>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000464206
  ensembl transcript: ENST00000584707
  gene symbol: EPN2
  hgvsc: ENST00000584707.1:c.115C>A
  hgvsp: ENSP00000464206.1:p.Leu39Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.115C>A
  hgvsp: ENSP00000459542.1:p.Leu39Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.115C>A
  hgvsp: ENSP00000320543.5:p.Leu39Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.115C>A
  hgvsp: ENSP00000462426.1:p.Leu39Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.115C>A
  hgvsp: ENSP00000462392.1:p.Leu39Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.115C>A
  hgvsp: ENSP00000463627.1:p.Leu39Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.115C>A
  hgvsp: ENSP00000378990.2:p.Leu39Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.115C>A
  hgvsp: ENSP00000378982.2:p.Leu39Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26651C>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.408C>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.115C>A
  hgvsp: ENSP00000261495.3:p.Leu39Met
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26651C>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26651C>A
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu39Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-19186555-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186555
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186555
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.123C>G
  hgvsp: ENST00000577195.1:c.123C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26643C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.416C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.123C>G
  hgvsp: ENST00000395628.2:c.123C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.123C>G
  hgvsp: ENST00000314728.5:c.123C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.123C>G
  hgvsp: ENST00000584633.1:c.123C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.123C>G
  hgvsp: ENST00000347697.2:c.123C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.123C>G
  hgvsp: ENST00000395626.1:c.123C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26643C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.123C>G
  hgvsp: ENST00000395620.2:c.123C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.123C>G
  hgvsp: ENST00000571254.1:c.123C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26643C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26643C>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.123C>G
  hgvsp: ENST00000577692.1:c.123C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr41Thr
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-19186555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186555
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186555
    reference: chr 17
allele count: 11
allele frequency: 9.060059961124106e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26643C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.123C>T
  hgvsp: ENST00000395628.2:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.123C>T
  hgvsp: ENST00000347697.2:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.123C>T
  hgvsp: ENST00000314728.5:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.416C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.123C>T
  hgvsp: ENST00000571254.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.123C>T
  hgvsp: ENST00000577195.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.123C>T
  hgvsp: ENST00000577692.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26643C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.123C>T
  hgvsp: ENST00000584633.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26643C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.123C>T
  hgvsp: ENST00000395626.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26643C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.123C>T
  hgvsp: ENST00000395620.2:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr41Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-19186556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186556
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186556
    reference: chr 17
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.124G>A
  hgvsp: ENSP00000378988.1:p.Glu42Lys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.124G>A
  hgvsp: ENSP00000261495.3:p.Glu42Lys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.124G>A
  hgvsp: ENSP00000320543.5:p.Glu42Lys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.124G>A
  hgvsp: ENSP00000463627.1:p.Glu42Lys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26642G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26642G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.124G>A
  hgvsp: ENSP00000462426.1:p.Glu42Lys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26642G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.124G>A
  hgvsp: ENSP00000459542.1:p.Glu42Lys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.124G>A
  hgvsp: ENSP00000378990.2:p.Glu42Lys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26642G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.124G>A
  hgvsp: ENSP00000378982.2:p.Glu42Lys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.124G>A
  hgvsp: ENSP00000462392.1:p.Glu42Lys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.417G>A
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu42Lys
num of homozygotes: 1
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ

17-19186564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186564
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186564
    reference: chr 17
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26634C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.132C>T
  hgvsp: ENST00000395626.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.132C>T
  hgvsp: ENST00000347697.2:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.132C>T
  hgvsp: ENST00000395620.2:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.132C>T
  hgvsp: ENST00000584633.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.425C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.132C>T
  hgvsp: ENST00000314728.5:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26634C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.132C>T
  hgvsp: ENST00000395628.2:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26634C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.132C>T
  hgvsp: ENST00000577195.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26634C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.132C>T
  hgvsp: ENST00000577692.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.132C>T
  hgvsp: ENST00000571254.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala44Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

17-19186565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186565
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186565
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.133G>A
  hgvsp: ENSP00000378988.1:p.Asp45Asn
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.133G>A
  hgvsp: ENSP00000261495.3:p.Asp45Asn
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.133G>A
  hgvsp: ENSP00000462392.1:p.Asp45Asn
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.133G>A
  hgvsp: ENSP00000378990.2:p.Asp45Asn
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.133G>A
  hgvsp: ENSP00000459542.1:p.Asp45Asn
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.133G>A
  hgvsp: ENSP00000320543.5:p.Asp45Asn
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.133G>A
  hgvsp: ENSP00000463627.1:p.Asp45Asn
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26633G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.133G>A
  hgvsp: ENSP00000462426.1:p.Asp45Asn
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.133G>A
  hgvsp: ENSP00000378982.2:p.Asp45Asn
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26633G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.426G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26633G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26633G>A
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp45Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-19186567-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186567
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186567
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.428C>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.135C>A
  hgvsp: ENSP00000462392.1:p.Asp45Glu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26631C>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.135C>A
  hgvsp: ENSP00000459542.1:p.Asp45Glu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.135C>A
  hgvsp: ENSP00000462426.1:p.Asp45Glu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26631C>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26631C>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.135C>A
  hgvsp: ENSP00000463627.1:p.Asp45Glu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26631C>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.135C>A
  hgvsp: ENSP00000261495.3:p.Asp45Glu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.135C>A
  hgvsp: ENSP00000378990.2:p.Asp45Glu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.135C>A
  hgvsp: ENSP00000320543.5:p.Asp45Glu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.135C>A
  hgvsp: ENSP00000378988.1:p.Asp45Glu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.135C>A
  hgvsp: ENSP00000378982.2:p.Asp45Glu
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp45Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

17-19186575-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186575
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186575
    reference: chr 17
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.143A>G
  hgvsp: ENSP00000261495.3:p.Tyr48Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26623A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.143A>G
  hgvsp: ENSP00000378988.1:p.Tyr48Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.143A>G
  hgvsp: ENSP00000462392.1:p.Tyr48Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26623A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26623A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.143A>G
  hgvsp: ENSP00000378990.2:p.Tyr48Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.143A>G
  hgvsp: ENSP00000320543.5:p.Tyr48Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.143A>G
  hgvsp: ENSP00000378982.2:p.Tyr48Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26623A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.143A>G
  hgvsp: ENSP00000459542.1:p.Tyr48Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.436A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.143A>G
  hgvsp: ENSP00000462426.1:p.Tyr48Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.143A>G
  hgvsp: ENSP00000463627.1:p.Tyr48Cys
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr48Cys
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

17-19186579-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186579
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186579
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.147C>T
  hgvsp: ENST00000571254.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.147C>T
  hgvsp: ENST00000395626.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.147C>T
  hgvsp: ENST00000577692.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.147C>T
  hgvsp: ENST00000347697.2:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.440C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.147C>T
  hgvsp: ENST00000314728.5:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26619C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.147C>T
  hgvsp: ENST00000577195.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.147C>T
  hgvsp: ENST00000395628.2:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.147C>T
  hgvsp: ENST00000395620.2:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.147C>T
  hgvsp: ENST00000584633.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26619C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26619C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26619C>T
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn49Asn
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

17-19186589-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186589
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186589
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26609T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.157T>C
  hgvsp: ENSP00000459542.1:p.Phe53Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.450T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.157T>C
  hgvsp: ENSP00000378988.1:p.Phe53Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26609T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26609T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.157T>C
  hgvsp: ENSP00000320543.5:p.Phe53Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.157T>C
  hgvsp: ENSP00000261495.3:p.Phe53Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.157T>C
  hgvsp: ENSP00000378990.2:p.Phe53Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.157T>C
  hgvsp: ENSP00000462426.1:p.Phe53Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.157T>C
  hgvsp: ENSP00000462392.1:p.Phe53Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26609T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.157T>C
  hgvsp: ENSP00000378982.2:p.Phe53Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.157T>C
  hgvsp: ENSP00000463627.1:p.Phe53Leu
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10874
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe53Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

17-19186594-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186594
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186594
    reference: chr 17
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.162G>A
  hgvsp: ENST00000395628.2:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26604G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.162G>A
  hgvsp: ENST00000314728.5:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.162G>A
  hgvsp: ENST00000347697.2:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.162G>A
  hgvsp: ENST00000577195.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.162G>A
  hgvsp: ENST00000584633.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.162G>A
  hgvsp: ENST00000395620.2:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.162G>A
  hgvsp: ENST00000577692.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26604G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26604G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.162G>A
  hgvsp: ENST00000395626.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.162G>A
  hgvsp: ENST00000571254.1:c.162G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26604G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.455G>A
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser54Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

17-19186597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186597
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186597
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.165G>A
  hgvsp: ENST00000584633.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26601G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.165G>A
  hgvsp: ENST00000347697.2:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.458G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.165G>A
  hgvsp: ENST00000395628.2:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.165G>A
  hgvsp: ENST00000314728.5:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.165G>A
  hgvsp: ENST00000395626.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.165G>A
  hgvsp: ENST00000577692.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.165G>A
  hgvsp: ENST00000577195.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.165G>A
  hgvsp: ENST00000395620.2:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.165G>A
  hgvsp: ENST00000571254.1:c.165G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26601G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26601G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26601G>A
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu55Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

17-19186607-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186607
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186607
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.468A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.175A>G
  hgvsp: ENSP00000463627.1:p.Met59Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26591A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.175A>G
  hgvsp: ENSP00000320543.5:p.Met59Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.175A>G
  hgvsp: ENSP00000378988.1:p.Met59Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.175A>G
  hgvsp: ENSP00000261495.3:p.Met59Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.175A>G
  hgvsp: ENSP00000462426.1:p.Met59Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.175A>G
  hgvsp: ENSP00000378982.2:p.Met59Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.175A>G
  hgvsp: ENSP00000459542.1:p.Met59Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26591A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.175A>G
  hgvsp: ENSP00000378990.2:p.Met59Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.175A>G
  hgvsp: ENSP00000462392.1:p.Met59Val
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26591A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26591A>G
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met59Val
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

17-19186611-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186611
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186611
    reference: chr 17
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.179T>C
  hgvsp: ENSP00000320543.5:p.Val60Ala
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26587T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.179T>C
  hgvsp: ENSP00000378990.2:p.Val60Ala
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.179T>C
  hgvsp: ENSP00000463627.1:p.Val60Ala
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.179T>C
  hgvsp: ENSP00000378988.1:p.Val60Ala
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26587T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.179T>C
  hgvsp: ENSP00000462426.1:p.Val60Ala
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.179T>C
  hgvsp: ENSP00000459542.1:p.Val60Ala
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.472T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462392
  ensembl transcript: ENST00000577195
  gene symbol: EPN2
  hgvsc: ENST00000577195.1:c.179T>C
  hgvsp: ENSP00000462392.1:p.Val60Ala
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26587T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.179T>C
  hgvsp: ENSP00000261495.3:p.Val60Ala
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26587T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.179T>C
  hgvsp: ENSP00000378982.2:p.Val60Ala
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val60Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

17-19186621-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186621
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186621
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26577G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.189G>T
  hgvsp: ENST00000577692.1:c.189G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26577G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.189G>T
  hgvsp: ENST00000571254.1:c.189G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.189G>T
  hgvsp: ENST00000314728.5:c.189G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.189G>T
  hgvsp: ENST00000395626.1:c.189G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.189G>T
  hgvsp: ENST00000395620.2:c.189G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.189G>T
  hgvsp: ENST00000584633.1:c.189G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26577G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26577G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.189G>T
  hgvsp: ENST00000395628.2:c.189G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.482G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.189G>T
  hgvsp: ENST00000347697.2:c.189G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg63Arg
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

17-19186633-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186633
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186633
    reference: chr 17
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.201T>C
  hgvsp: ENST00000314728.5:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.201T>C
  hgvsp: ENST00000577692.1:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26565T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26565T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.201T>C
  hgvsp: ENST00000395628.2:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26565T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.494T>C
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.201T>C
  hgvsp: ENST00000571254.1:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.201T>C
  hgvsp: ENST00000584633.1:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.201T>C
  hgvsp: ENST00000347697.2:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.201T>C
  hgvsp: ENST00000395620.2:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.201T>C
  hgvsp: ENST00000395626.1:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26565T>C
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His67His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS

17-19186651-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186651
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186651
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.219T>A
  hgvsp: ENSP00000378988.1:p.His73Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000462426
  ensembl transcript: ENST00000584633
  gene symbol: EPN2
  hgvsc: ENST00000584633.1:c.219T>A
  hgvsp: ENSP00000462426.1:p.His73Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.219T>A
  hgvsp: ENSP00000378982.2:p.His73Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.219T>A
  hgvsp: ENSP00000261495.3:p.His73Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26547T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26547T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.219T>A
  hgvsp: ENSP00000378990.2:p.His73Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.219T>A
  hgvsp: ENSP00000459542.1:p.His73Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.219T>A
  hgvsp: ENSP00000463627.1:p.His73Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26547T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26547T>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.219T>A
  hgvsp: ENSP00000320543.5:p.His73Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.512T>A
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His73Gln
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

17-19186663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186663
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186663
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.524G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26535G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.231G>A
  hgvsp: ENST00000395628.2:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26535G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.231G>A
  hgvsp: ENST00000571254.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26535G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.231G>A
  hgvsp: ENST00000347697.2:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.231G>A
  hgvsp: ENST00000395626.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.231G>A
  hgvsp: ENST00000395620.2:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26535G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.231G>A
  hgvsp: ENST00000314728.5:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.231G>A
  hgvsp: ENST00000577692.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala77Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

17-19186680-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186680
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186680
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26518A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26518A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.248A>G
  hgvsp: ENSP00000320543.5:p.Tyr83Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26518A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.248A>G
  hgvsp: ENSP00000463627.1:p.Tyr83Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.248A>G
  hgvsp: ENSP00000378982.2:p.Tyr83Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.248A>G
  hgvsp: ENSP00000459542.1:p.Tyr83Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.248A>G
  hgvsp: ENSP00000378988.1:p.Tyr83Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26518A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.248A>G
  hgvsp: ENSP00000378990.2:p.Tyr83Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.248A>G
  hgvsp: ENSP00000261495.3:p.Tyr83Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.541A>G
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr83Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

17-19186696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186696
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186696
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.264C>T
  hgvsp: ENST00000395628.2:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.557C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26502C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.264C>T
  hgvsp: ENST00000347697.2:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.264C>T
  hgvsp: ENST00000577692.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26502C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26502C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.264C>T
  hgvsp: ENST00000571254.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26502C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.264C>T
  hgvsp: ENST00000395620.2:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.264C>T
  hgvsp: ENST00000314728.5:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.264C>T
  hgvsp: ENST00000395626.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly88Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

17-19186699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186699
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186699
    reference: chr 17
allele count: 13
allele frequency: 1.070928412554576e-4
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.267C>T
  hgvsp: ENST00000314728.5:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.560C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.267C>T
  hgvsp: ENST00000395620.2:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.267C>T
  hgvsp: ENST00000577692.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.267C>T
  hgvsp: ENST00000571254.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26499C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.267C>T
  hgvsp: ENST00000395626.1:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.267C>T
  hgvsp: ENST00000347697.2:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26499C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26499C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26499C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.267C>T
  hgvsp: ENST00000395628.2:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser89Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-19186703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186703
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186703
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.564C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.271C>T
  hgvsp: ENSP00000463627.1:p.Arg91Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26495C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26495C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26495C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.271C>T
  hgvsp: ENSP00000320543.5:p.Arg91Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.271C>T
  hgvsp: ENSP00000378988.1:p.Arg91Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.271C>T
  hgvsp: ENSP00000378990.2:p.Arg91Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.271C>T
  hgvsp: ENSP00000378982.2:p.Arg91Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.271C>T
  hgvsp: ENSP00000459542.1:p.Arg91Cys
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26495C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.271C>T
  hgvsp: ENSP00000261495.3:p.Arg91Cys
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg91Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

17-19186704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186704
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186704
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.272G>A
  hgvsp: ENSP00000378988.1:p.Arg91His
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.272G>A
  hgvsp: ENSP00000378990.2:p.Arg91His
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.272G>A
  hgvsp: ENSP00000378982.2:p.Arg91His
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.272G>A
  hgvsp: ENSP00000463627.1:p.Arg91His
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.565G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.272G>A
  hgvsp: ENSP00000459542.1:p.Arg91His
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.272G>A
  hgvsp: ENSP00000261495.3:p.Arg91His
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26494G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26494G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26494G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.272G>A
  hgvsp: ENSP00000320543.5:p.Arg91His
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26494G>A
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg91His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-19186713-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186713
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186713
    reference: chr 17
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.281A>G
  hgvsp: ENSP00000378990.2:p.Gln94Arg
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.281A>G
  hgvsp: ENSP00000378988.1:p.Gln94Arg
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.281A>G
  hgvsp: ENSP00000378982.2:p.Gln94Arg
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26485A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.281A>G
  hgvsp: ENSP00000261495.3:p.Gln94Arg
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463627
  ensembl transcript: ENST00000577692
  gene symbol: EPN2
  hgvsc: ENST00000577692.1:c.281A>G
  hgvsp: ENSP00000463627.1:p.Gln94Arg
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26485A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.281A>G
  hgvsp: ENSP00000320543.5:p.Gln94Arg
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.281A>G
  hgvsp: ENSP00000459542.1:p.Gln94Arg
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.574A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26485A>G
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26485A>G
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln94Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

17-19186721-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186721
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186721
    reference: chr 17
allele count: 6
allele frequency: 4.942827956634923e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.289C>T
  hgvsp: ENSP00000378988.1:p.Arg97Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.289C>T
  hgvsp: ENSP00000261495.3:p.Arg97Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.289C>T
  hgvsp: ENSP00000378982.2:p.Arg97Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26477C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26477C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26477C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26477C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.289C>T
  hgvsp: ENSP00000459542.1:p.Arg97Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.289C>T
  hgvsp: ENSP00000320543.5:p.Arg97Trp
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.582C>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.289C>T
  hgvsp: ENSP00000378990.2:p.Arg97Trp
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11216
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg97Trp
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-19186722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186722
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186722
    reference: chr 17
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26476G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.290G>A
  hgvsp: ENSP00000261495.3:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.290G>A
  hgvsp: ENSP00000459542.1:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26476G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.290G>A
  hgvsp: ENSP00000378988.1:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.290G>A
  hgvsp: ENSP00000378982.2:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.290G>A
  hgvsp: ENSP00000320543.5:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26476G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.583G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26476G>A
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.290G>A
  hgvsp: ENSP00000378990.2:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg97Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

17-19186722-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 19186722
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 19186722
    reference: chr 17
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378990
  ensembl transcript: ENST00000395628
  gene symbol: EPN2
  hgvsc: ENST00000395628.2:c.290G>T
  hgvsp: ENSP00000378990.2:p.Arg97Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459678
  ensembl transcript: ENST00000575595
  gene symbol: EPN2
  hgvsc: ENST00000575595.1:c.-89-26476G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072134
  ensembl transcript: ENST00000495155
  gene symbol: EPN2
  hgvsc: ENST00000495155.1:n.583G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000320543
  ensembl transcript: ENST00000314728
  gene symbol: EPN2
  hgvsc: ENST00000314728.5:c.290G>T
  hgvsp: ENSP00000320543.5:p.Arg97Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000460193
  ensembl transcript: ENST00000494192
  gene symbol: EPN2
  hgvsc: ENST00000494192.2:c.-89-26476G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000261495
  ensembl transcript: ENST00000347697
  gene symbol: EPN2
  hgvsc: ENST00000347697.2:c.290G>T
  hgvsp: ENSP00000261495.3:p.Arg97Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000463769
  ensembl transcript: ENST00000580579
  gene symbol: EPN2
  hgvsc: ENST00000580579.1:c.-135-26476G>T
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378982
  ensembl transcript: ENST00000395620
  gene symbol: EPN2
  hgvsc: ENST00000395620.2:c.290G>T
  hgvsp: ENSP00000378982.2:p.Arg97Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000459542
  ensembl transcript: ENST00000571254
  gene symbol: EPN2
  hgvsc: ENST00000571254.1:c.290G>T
  hgvsp: ENSP00000459542.1:p.Arg97Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378988
  ensembl transcript: ENST00000395626
  gene symbol: EPN2
  hgvsc: ENST00000395626.1:c.290G>T
  hgvsp: ENSP00000378988.1:p.Arg97Leu
  variant of: http://identifiers.org/hgnc/18639
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072134
  ensembl protein: ENSP00000378980
  ensembl transcript: ENST00000395618
  gene symbol: EPN2
  hgvsc: ENST00000395618.3:c.-89-26476G>T
  variant of: http://identifiers.org/hgnc/18639
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg97Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.785714285714286e-3
allele num: 560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.454e1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 5.553e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

QD
type: SiteQuality
SIO_000300: 1.714e1

DP
type: SiteQuality
SIO_000300: 9.217e3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.779e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.703703703703703e-2
allele num: 54
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.794e3

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.51e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.175e0

QD
type: SiteQuality
SIO_000300: 2.66e1

MQ
type: SiteQuality
SIO_000300: 3.013e1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.597122302158274e-3
allele num: 556
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.73e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-2

DP
type: SiteQuality
SIO_000300: 8.08e3

MQ
type: SiteQuality
SIO_000300: 2.886e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.462e0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.91e2

VQSLOD
type: SiteQuality
SIO_000300: -5.289e0

QD
type: SiteQuality
SIO_000300: 1.504e1

MQ
type: SiteQuality
SIO_000300: 2.394e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.36e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.492e1

VQSLOD
type: SiteQuality
SIO_000300: -3.636e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.12e-2

DP
type: SiteQuality
SIO_000300: 4.56e2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 2.956e1

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 4.57e2

MQ
type: SiteQuality
SIO_000300: 2.2e1

QD
type: SiteQuality
SIO_000300: 1.615e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.894e0

FS
type: SiteQuality
SIO_000300: 0.0e0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.51e2

VQSLOD
type: SiteQuality
SIO_000300: -5.47e0

MQ
type: SiteQuality
SIO_000300: 2.2e1

QD
type: SiteQuality
SIO_000300: 1.431e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 14054
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7845
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1103
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18375
bin: 1.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3634
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12368
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2825
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7715
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3535
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1964
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7409
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3437
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4605
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5405
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8642
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7427
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1885
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3776
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7492
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.815046543567831e-5
allele num: 52424
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

QD
type: SiteQuality
SIO_000300: 1.584e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 8.75406e5

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 9657
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18276
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12384
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2755
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3726
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12302
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1116
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 257
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 159
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 346
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7362
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4620
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3380
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7688
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9741
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1936
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9472
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52576
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.216803369541122e-4
allele num: 9022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7496
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.606e0

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

QD
type: SiteQuality
SIO_000300: 1.367e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 8.85404e5

GenotypeDepth
all individuals: 3
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13558
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12439
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17829
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1156
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4082
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2448
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8719
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1878
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13949
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1334
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7558
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6964
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 474
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4548
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2884
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3529
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.893078903528699e-5
allele num: 52824
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African
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QD
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DP
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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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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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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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Latino
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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MQ
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VQSLOD
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QD
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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DP
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ReadPosRankSum
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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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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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Other
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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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East Asian
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Latino
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QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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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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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 (Finnish)
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African
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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VQSLOD
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FS
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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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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African
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European (Finnish)
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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FS
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VQSLOD
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MQ
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DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

South Asian
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Latino
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European (Finnish)
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East Asian
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African
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BaseQRankSum
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

FS
type: SiteQuality
SIO_000300: 4.769e0

QD
type: SiteQuality
SIO_000300: 1.58e1

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: 0

GenotypeDepth
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GenotypeDepth
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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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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 296
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

DP
type: SiteQuality
SIO_000300: 1.196735e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.683e0

MQ
type: SiteQuality
SIO_000300: 5.564e1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.235e-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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GenotypeDepth
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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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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.687251130458257e-5
allele num: 59268
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.05e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

DP
type: SiteQuality
SIO_000300: 1.209097e6

FS
type: SiteQuality
SIO_000300: 3.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 1.432e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 2330
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variant carriers: 0

GenotypeDepth
all individuals: 7
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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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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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GenotypeDepth
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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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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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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.629142093773419e-5
allele num: 61382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11294
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7748
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.212e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

VQSLOD
type: SiteQuality
SIO_000300: -1.035e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.262829e6

QD
type: SiteQuality
SIO_000300: 1.34e1

GenotypeDepth
all individuals: 16
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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
all individuals: 43
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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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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: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 1100
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GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 191
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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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GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.25e1
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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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4453
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11136
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.054123711340206e-5
allele num: 12416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.12e0

VQSLOD
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.519e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

BaseQRankSum
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SIO_000300: 4.74e0

DP
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SIO_000300: 1.302098e6

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 1

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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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

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 1

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2360
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
all individuals: 2
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
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GenotypeQuality
all individuals: 202
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GenotypeQuality
all individuals: 125
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 324
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 4690
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2545
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1155
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.765778401122019e-5
allele num: 11408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53666482266888e-5
allele num: 65076
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.034e0

DP
type: SiteQuality
SIO_000300: 1.34907e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.12e-1

FS
type: SiteQuality
SIO_000300: 1.4506e1

Annotation
canonical: false
clinical significance: not_provided
consequence: synonymous_variant
ensembl gene: ENSG00000072134
ensembl protein: ENSP00000463627
ensembl transcript: ENST00000577692
gene symbol: EPN2
hgvsc: ENST00000577692.1:c.9T>G
hgvsp: ENST00000577692.1:c.9T>G(p.%3D)
variant of: http://identifiers.org/hgnc/18639

GenotypeDepth
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9833
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 338
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46075
bin: 2.25e1
variant carriers: 0

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East Asian
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VQSLOD
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QD
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FS
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InbreedingCoeff
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DP
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GenotypeDepth
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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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European (Finnish)
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Latino
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QD
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DP
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FS
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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MQ
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DP
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FS
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GenotypeDepth
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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African
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FS
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VQSLOD
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FS
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ReadPosRankSum
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DP
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VQSLOD
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African
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South Asian
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European (Finnish)
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FS
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GenotypeQuality
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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

European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

African
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South Asian
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num of homozygotes: 0

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

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

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

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

MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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SIO_000300: 5.398e0

ClippingRankSum
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BaseQRankSum
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SIO_000300: -1.503e0

VQSLOD
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SIO_000300: -5.849e-1

QD
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SIO_000300: 9.289999999999999e0

MQ
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SIO_000300: 5.982e1

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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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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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 frequency: 1.211240310077519e-4
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InbreedingCoeff
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QD
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DP
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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ReadPosRankSum
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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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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: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

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

VQSLOD
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SIO_000300: 1.18e0

FS
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SIO_000300: 0.0e0

BaseQRankSum
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MQRankSum
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SIO_000300: -9.03e-1

QD
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InbreedingCoeff
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ClippingRankSum
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MQ
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SIO_000300: 5.982e1

ReadPosRankSum
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DP
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SIO_000300: 1.405545e6

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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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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

GenotypeDepth
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variant carriers: 1

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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European (Non-Finnish)
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South Asian
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Other
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African
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European (Finnish)
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Latino
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East Asian
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 1

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.405752e6

InbreedingCoeff
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FS
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QD
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VQSLOD
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MQ
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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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bin: 7.25e1
variant carriers: 0

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

East Asian
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South Asian
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allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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VQSLOD
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ClippingRankSum
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QD
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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DP
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

African
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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
allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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QD
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ClippingRankSum
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DP
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SIO_000300: 1.405743e6

ReadPosRankSum
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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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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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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

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

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

DP
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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FS
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SIO_000300: 8.02e-1

QD
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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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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variant carriers: 1

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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African
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allele num: 10406
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

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

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

Latino
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African
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South Asian
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East Asian
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European (Finnish)
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Other
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MQ
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BaseQRankSum
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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VQSLOD
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FS
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ReadPosRankSum
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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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Latino
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allele frequency: 0.0e0
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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 66736
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African
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European (Finnish)
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DP
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ClippingRankSum
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ReadPosRankSum
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FS
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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BaseQRankSum
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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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European (Non-Finnish)
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allele num: 66736
num of homozygotes: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 704
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51173
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.055e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.073e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.199e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

DP
type: SiteQuality
SIO_000300: 1.409343e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51160
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5283
bin: 6.75e1
variant carriers: 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: 8654
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: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.29e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.287e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.410315e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 1.75e1
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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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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 8.37e-1

DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
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SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 1.343e1

FS
type: SiteQuality
SIO_000300: 4.187e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

GenotypeQuality
all individuals: 28
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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
all individuals: 5291
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 240
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51145
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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