19-16551749-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16551749
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16551749
    reference: chr 19
allele count: 34
allele frequency: 2.803476310625175e-4
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.166-29T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.196-29T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.166-29T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.166-29T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.164-29T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.166-29T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.166-29T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.166-29T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+954T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.166-29T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.166-29T>C
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46678
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

19-16551757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16551757
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16551757
    reference: chr 19
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.166-37G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.196-37G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.164-37G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.166-37G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.166-37G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.166-37G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.1C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+946G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.166-37G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.166-37G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.166-37G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.166-37G>A
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46674
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

19-16551767-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16551767
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16551767
    reference: chr 19
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+936G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.196-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.166-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.166-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.166-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.166-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.166-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.166-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.11C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.166-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.164-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.166-47G>A
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46674
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-16551770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16551770
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16551770
    reference: chr 19
allele count: 2
allele frequency: 1.649321304283287e-5
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+933G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.166-50G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.14C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.166-50G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.166-50G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.166-50G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.164-50G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.196-50G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.166-50G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.166-50G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.166-50G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.166-50G>A
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46674
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

19-16551771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16551771
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16551771
    reference: chr 19
allele count: 2
allele frequency: 1.649457328538911e-5
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.166-51C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.166-51C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+932C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.166-51C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.196-51C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.15G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.166-51C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.164-51C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.166-51C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.166-51C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.166-51C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.166-51C>T
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

19-16552653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552653
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552653
    reference: chr 19
allele count: 4
allele frequency: 3.501768393038485e-5
allele num: 114228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.165+50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.165+50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.165+50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.165+50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.165+50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.195+50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.236C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.165+50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.165+50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.165+50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+603G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.163+50C>T
  variant of: http://identifiers.org/hgnc/24634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

19-16552658-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552658
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552658
    reference: chr 19
allele count: 1
allele frequency: 8.751509635412108e-6
allele num: 114266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.195+45C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.165+45C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.165+45C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.231C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+608G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.165+45C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.163+45C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.165+45C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.165+45C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+45C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.165+45C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.165+45C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.165+45C>G
  variant of: http://identifiers.org/hgnc/24634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

19-16552659-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552659
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552659
    reference: chr 19
allele count: 2
allele frequency: 1.750056876848498e-5
allele num: 114282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.165+44A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+44A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.165+44A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.195+44A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.165+44A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.165+44A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.165+44A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.165+44A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+609T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.163+44A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.165+44A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.230A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.165+44A>G
  variant of: http://identifiers.org/hgnc/24634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12694
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

19-16552663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552663
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552663
    reference: chr 19
allele count: 3
allele frequency: 2.621965075425195e-5
allele num: 114418
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.165+40C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.226C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.165+40C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.165+40C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.163+40C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.195+40C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+613G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.165+40C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.165+40C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.165+40C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+40C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.165+40C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.165+40C>T
  variant of: http://identifiers.org/hgnc/24634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-16552664-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552664
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552664
    reference: chr 19
allele count: 7
allele frequency: 6.134969325153375e-5
allele num: 114100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.165+39C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.165+39C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+614G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.195+39C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+39C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.165+39C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.163+39C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.225C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.165+39C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.165+39C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.165+39C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.165+39C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.165+39C>G
  variant of: http://identifiers.org/hgnc/24634
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 12682
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12450
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

19-16552676-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552676
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552676
    reference: chr 19
allele count: 1
allele frequency: 8.668966832532898e-6
allele num: 115354
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.165+27C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.165+27C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.165+27C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.165+27C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.165+27C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+27C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.195+27C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.165+27C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.213C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.165+27C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+626G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.165+27C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.163+27C>T
  variant of: http://identifiers.org/hgnc/24634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-16552678-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552678
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552678
    reference: chr 19
allele count: 1
allele frequency: 8.654711625008655e-6
allele num: 115544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.165+25C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.211C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.165+25C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.195+25C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+628G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.165+25C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.165+25C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+25C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.165+25C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.163+25C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.165+25C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.165+25C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.165+25C>A
  variant of: http://identifiers.org/hgnc/24634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

19-16552681-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552681
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552681
    reference: chr 19
allele count: 1
allele frequency: 8.638264054455616e-6
allele num: 115764
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+631A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.165+22T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+22T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.165+22T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.165+22T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.165+22T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.195+22T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.165+22T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.165+22T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.208T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.163+22T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.165+22T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.165+22T>C
  variant of: http://identifiers.org/hgnc/24634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

19-16552686-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552686
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552686
    reference: chr 19
allele count: 4
allele frequency: 3.436189952580579e-5
allele num: 116408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+17A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.165+17A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.165+17A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.165+17A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.165+17A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.165+17A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.195+17A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.165+17A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.203A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.165+17A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.165+17A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+636T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.163+17A>G
  variant of: http://identifiers.org/hgnc/24634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-16552691-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552691
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552691
    reference: chr 19
allele count: 1
allele frequency: 8.542627712284299e-6
allele num: 117060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.165+12T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.198T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.165+12T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.195+12T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.165+12T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.165+12T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+641A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.165+12T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.163+12T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.165+12T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.165+12T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.165+12T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.165+12T>C
  variant of: http://identifiers.org/hgnc/24634
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

19-16552712-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552712
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552712
    reference: chr 19
allele count: 1
allele frequency: 8.334722453742291e-6
allele num: 119980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.156C>T
  hgvsp: ENST00000597937.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.156C>T
  hgvsp: ENST00000602022.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.156C>T
  hgvsp: ENST00000248070.6:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.156C>T
  hgvsp: ENST00000592031.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.156C>T
  hgvsp: ENST00000535753.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+662G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.156C>T
  hgvsp: ENST00000596037.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.156C>T
  hgvsp: ENST00000455140.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.156C>T
  hgvsp: ENST00000594975.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.154C>T
  hgvsp: ENST00000602151.1:c.154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.156C>T
  hgvsp: ENST00000593760.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.177C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.186C>T
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile52Ile
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

19-16552714-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552714
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552714
    reference: chr 19
allele count: 1
allele frequency: 8.32126749546491e-6
allele num: 120174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.154A>G
  hgvsp: ENSP00000465286.2:p.Ile52Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.154A>G
  hgvsp: ENSP00000248070.5:p.Ile52Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.154A>G
  hgvsp: ENSP00000472135.1:p.Ile52Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.152A>G
  hgvsp: ENSP00000468866.1:p.Ile52Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.184A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.154A>G
  hgvsp: ENSP00000471662.1:p.Ile52Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+664T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.154A>G
  hgvsp: ENSP00000440103.1:p.Ile52Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.154A>G
  hgvsp: ENSP00000472267.1:p.Ile52Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.154A>G
  hgvsp: ENSP00000472958.1:p.Ile52Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.175A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.154A>G
  hgvsp: ENSP00000393313.1:p.Ile52Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.154A>G
  hgvsp: ENSP00000471981.1:p.Ile52Val
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile52Val
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

19-16552715-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552715
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552715
    reference: chr 19
allele count: 1
allele frequency: 8.315178526882972e-6
allele num: 120262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.183T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.153T>C
  hgvsp: ENST00000248070.6:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.174T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.153T>C
  hgvsp: ENST00000597937.1:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.153T>C
  hgvsp: ENST00000592031.1:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.153T>C
  hgvsp: ENST00000593760.1:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.153T>C
  hgvsp: ENST00000535753.2:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.153T>C
  hgvsp: ENST00000594975.1:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.153T>C
  hgvsp: ENST00000455140.2:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+665A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.153T>C
  hgvsp: ENST00000602022.1:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.153T>C
  hgvsp: ENST00000596037.1:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.151T>C
  hgvsp: ENST00000602151.1:c.151T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile51Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS

19-16552717-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552717
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552717
    reference: chr 19
allele count: 1
allele frequency: 8.308822307526131e-6
allele num: 120354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.151A>G
  hgvsp: ENSP00000471662.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.151A>G
  hgvsp: ENSP00000472135.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.151A>G
  hgvsp: ENSP00000472267.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.149A>G
  hgvsp: ENSP00000468866.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.181A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.151A>G
  hgvsp: ENSP00000440103.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.151A>G
  hgvsp: ENSP00000472958.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.151A>G
  hgvsp: ENSP00000393313.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.151A>G
  hgvsp: ENSP00000465286.2:p.Ile51Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.172A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.151A>G
  hgvsp: ENSP00000248070.5:p.Ile51Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+667T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.151A>G
  hgvsp: ENSP00000471981.1:p.Ile51Val
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile51Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

19-16552720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552720
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552720
    reference: chr 19
allele count: 4
allele frequency: 3.319061369444721e-5
allele num: 120516
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+670C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.148G>A
  hgvsp: ENSP00000471662.1:p.Asp50Asn
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.148G>A
  hgvsp: ENSP00000248070.5:p.Asp50Asn
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.146G>A
  hgvsp: ENSP00000468866.1:p.Asp50Asn
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.148G>A
  hgvsp: ENSP00000472135.1:p.Asp50Asn
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.148G>A
  hgvsp: ENSP00000472267.1:p.Asp50Asn
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.148G>A
  hgvsp: ENSP00000471981.1:p.Asp50Asn
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.148G>A
  hgvsp: ENSP00000465286.2:p.Asp50Asn
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.148G>A
  hgvsp: ENSP00000440103.1:p.Asp50Asn
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.169G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.148G>A
  hgvsp: ENSP00000393313.1:p.Asp50Asn
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.148G>A
  hgvsp: ENSP00000472958.1:p.Asp50Asn
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.178G>A
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp50Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

19-16552721-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552721
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552721
    reference: chr 19
allele count: 1
allele frequency: 8.29324929507381e-6
allele num: 120580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.147G>C
  hgvsp: ENST00000596037.1:c.147G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.147G>C
  hgvsp: ENST00000597937.1:c.147G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.147G>C
  hgvsp: ENST00000602022.1:c.147G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.147G>C
  hgvsp: ENST00000594975.1:c.147G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+671C>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.147G>C
  hgvsp: ENST00000535753.2:c.147G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.147G>C
  hgvsp: ENST00000592031.1:c.147G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.145G>C
  hgvsp: ENST00000602151.1:c.145G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.177G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.147G>C
  hgvsp: ENST00000455140.2:c.147G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.168G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.147G>C
  hgvsp: ENST00000593760.1:c.147G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.147G>C
  hgvsp: ENST00000248070.6:c.147G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser49Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

19-16552733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552733
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552733
    reference: chr 19
allele count: 2
allele frequency: 1.654122901331569e-5
allele num: 120910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.133G>A
  hgvsp: ENST00000602151.1:c.133G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.135G>A
  hgvsp: ENST00000592031.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.135G>A
  hgvsp: ENST00000593760.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+683C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.135G>A
  hgvsp: ENST00000597937.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.135G>A
  hgvsp: ENST00000594975.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.135G>A
  hgvsp: ENST00000535753.2:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.135G>A
  hgvsp: ENST00000596037.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.135G>A
  hgvsp: ENST00000248070.6:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.135G>A
  hgvsp: ENST00000455140.2:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.135G>A
  hgvsp: ENST00000602022.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.165G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.156G>A
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys45Lys
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-16552736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552736
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552736
    reference: chr 19
allele count: 2
allele frequency: 1.653548515113433e-5
allele num: 120952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.132G>A
  hgvsp: ENST00000593760.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.130G>A
  hgvsp: ENST00000602151.1:c.130G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.132G>A
  hgvsp: ENST00000596037.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.162G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.132G>A
  hgvsp: ENST00000594975.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.132G>A
  hgvsp: ENST00000535753.2:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+686C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.132G>A
  hgvsp: ENST00000597937.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.132G>A
  hgvsp: ENST00000592031.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.132G>A
  hgvsp: ENST00000602022.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.132G>A
  hgvsp: ENST00000248070.6:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.153G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.132G>A
  hgvsp: ENST00000455140.2:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5527
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys44Lys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

19-16552739-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552739
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552739
    reference: chr 19
allele count: 5
allele frequency: 4.133119513283846e-5
allele num: 120974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.129A>G
  hgvsp: ENST00000535753.2:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.150A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+689T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.159A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.129A>G
  hgvsp: ENST00000455140.2:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.129A>G
  hgvsp: ENST00000594975.1:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.129A>G
  hgvsp: ENST00000592031.1:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.129A>G
  hgvsp: ENST00000596037.1:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.127A>G
  hgvsp: ENST00000602151.1:c.127A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.129A>G
  hgvsp: ENST00000593760.1:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.129A>G
  hgvsp: ENST00000597937.1:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.129A>G
  hgvsp: ENST00000602022.1:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.129A>G
  hgvsp: ENST00000248070.6:c.129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8502
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu43Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-16552748-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552748
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552748
    reference: chr 19
allele count: 2
allele frequency: 1.652919882973272e-5
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.120G>T
  hgvsp: ENST00000455140.2:c.120G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.141G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.120G>T
  hgvsp: ENST00000592031.1:c.120G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.118G>T
  hgvsp: ENST00000602151.1:c.118G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+698C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.120G>T
  hgvsp: ENST00000597937.1:c.120G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.120G>T
  hgvsp: ENST00000535753.2:c.120G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.120G>T
  hgvsp: ENST00000593760.1:c.120G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.120G>T
  hgvsp: ENST00000602022.1:c.120G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.150G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.120G>T
  hgvsp: ENST00000596037.1:c.120G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.120G>T
  hgvsp: ENST00000248070.6:c.120G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.120G>T
  hgvsp: ENST00000594975.1:c.120G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala40Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

19-16552749-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552749
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552749
    reference: chr 19
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.119C>T
  hgvsp: ENSP00000471662.1:p.Ala40Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.119C>T
  hgvsp: ENSP00000440103.1:p.Ala40Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.119C>T
  hgvsp: ENSP00000472135.1:p.Ala40Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.119C>T
  hgvsp: ENSP00000472958.1:p.Ala40Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.117C>T
  hgvsp: ENSP00000468866.1:p.Ala40Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.140C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.119C>T
  hgvsp: ENSP00000465286.2:p.Ala40Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.119C>T
  hgvsp: ENSP00000393313.1:p.Ala40Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.149C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.119C>T
  hgvsp: ENSP00000472267.1:p.Ala40Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+699G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.119C>T
  hgvsp: ENSP00000248070.5:p.Ala40Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.119C>T
  hgvsp: ENSP00000471981.1:p.Ala40Val
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala40Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-16552759-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552759
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552759
    reference: chr 19
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.109A>T
  hgvsp: ENSP00000471662.1:p.Ser37Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.109A>T
  hgvsp: ENSP00000472135.1:p.Ser37Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.109A>T
  hgvsp: ENSP00000472267.1:p.Ser37Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.109A>T
  hgvsp: ENSP00000393313.1:p.Ser37Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.107A>T
  hgvsp: ENSP00000468866.1:p.Ser37Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.109A>T
  hgvsp: ENSP00000472958.1:p.Ser37Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.109A>T
  hgvsp: ENSP00000465286.2:p.Ser37Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+709T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.109A>T
  hgvsp: ENSP00000440103.1:p.Ser37Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.109A>T
  hgvsp: ENSP00000471981.1:p.Ser37Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.109A>T
  hgvsp: ENSP00000248070.5:p.Ser37Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.139A>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.130A>T
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser37Cys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-16552766-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552766
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552766
    reference: chr 19
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+716C>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.102G>T
  hgvsp: ENST00000592031.1:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.132G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.102G>T
  hgvsp: ENST00000597937.1:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.102G>T
  hgvsp: ENST00000602022.1:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.102G>T
  hgvsp: ENST00000593760.1:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.123G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.102G>T
  hgvsp: ENST00000596037.1:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.102G>T
  hgvsp: ENST00000535753.2:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.102G>T
  hgvsp: ENST00000248070.6:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.100G>T
  hgvsp: ENST00000602151.1:c.100G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.102G>T
  hgvsp: ENST00000594975.1:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.102G>T
  hgvsp: ENST00000455140.2:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val34Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

19-16552766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552766
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552766
    reference: chr 19
allele count: 9
allele frequency: 7.438139473379725e-5
allele num: 120998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.132G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.102G>A
  hgvsp: ENST00000602022.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.102G>A
  hgvsp: ENST00000597937.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.102G>A
  hgvsp: ENST00000594975.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.102G>A
  hgvsp: ENST00000455140.2:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.102G>A
  hgvsp: ENST00000535753.2:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.102G>A
  hgvsp: ENST00000593760.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.102G>A
  hgvsp: ENST00000596037.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.102G>A
  hgvsp: ENST00000592031.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.100G>A
  hgvsp: ENST00000602151.1:c.100G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+716C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.102G>A
  hgvsp: ENST00000248070.6:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.123G>A
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val34Val
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

19-16552769-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552769
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552769
    reference: chr 19
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.97G>C
  hgvsp: ENSP00000468866.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.99G>C
  hgvsp: ENSP00000465286.2:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.99G>C
  hgvsp: ENSP00000472135.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.129G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.99G>C
  hgvsp: ENSP00000471662.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+719C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.120G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.99G>C
  hgvsp: ENSP00000472267.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.99G>C
  hgvsp: ENSP00000248070.5:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.99G>C
  hgvsp: ENSP00000472958.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.99G>C
  hgvsp: ENSP00000440103.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.99G>C
  hgvsp: ENSP00000393313.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.99G>C
  hgvsp: ENSP00000471981.1:p.Arg33Ser
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg33Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

19-16552769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552769
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552769
    reference: chr 19
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.99G>A
  hgvsp: ENST00000593760.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.99G>A
  hgvsp: ENST00000597937.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.99G>A
  hgvsp: ENST00000594975.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.129G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+719C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.99G>A
  hgvsp: ENST00000455140.2:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.99G>A
  hgvsp: ENST00000248070.6:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.97G>A
  hgvsp: ENST00000602151.1:c.97G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.99G>A
  hgvsp: ENST00000592031.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.120G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.99G>A
  hgvsp: ENST00000596037.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.99G>A
  hgvsp: ENST00000535753.2:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.99G>A
  hgvsp: ENST00000602022.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg33Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

19-16552779-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552779
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552779
    reference: chr 19
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.119A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.89A>G
  hgvsp: ENSP00000440103.1:p.Tyr30Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+729T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.89A>G
  hgvsp: ENSP00000472958.1:p.Tyr30Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.89A>G
  hgvsp: ENSP00000465286.2:p.Tyr30Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.89A>G
  hgvsp: ENSP00000471981.1:p.Tyr30Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.89A>G
  hgvsp: ENSP00000472267.1:p.Tyr30Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.87A>G
  hgvsp: ENSP00000468866.1:p.Tyr30Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.110A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.89A>G
  hgvsp: ENSP00000471662.1:p.Tyr30Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.89A>G
  hgvsp: ENSP00000472135.1:p.Tyr30Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.89A>G
  hgvsp: ENSP00000393313.1:p.Tyr30Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.89A>G
  hgvsp: ENSP00000248070.5:p.Tyr30Cys
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr30Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

19-16552781-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552781
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552781
    reference: chr 19
allele count: 6
allele frequency: 4.965243296921549e-5
allele num: 120840
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.87A>G
  hgvsp: ENST00000248070.6:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+731T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.87A>G
  hgvsp: ENST00000596037.1:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.87A>G
  hgvsp: ENST00000592031.1:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.87A>G
  hgvsp: ENST00000455140.2:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.87A>G
  hgvsp: ENST00000594975.1:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.85A>G
  hgvsp: ENST00000602151.1:c.85A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.87A>G
  hgvsp: ENST00000597937.1:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.87A>G
  hgvsp: ENST00000602022.1:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.87A>G
  hgvsp: ENST00000593760.1:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.87A>G
  hgvsp: ENST00000535753.2:c.87A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.108A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.117A>G
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Ala29Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

19-16552784-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552784
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552784
    reference: chr 19
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.84G>A
  hgvsp: ENST00000602022.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.84G>A
  hgvsp: ENST00000597937.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.84G>A
  hgvsp: ENST00000594975.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.84G>A
  hgvsp: ENST00000596037.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.84G>A
  hgvsp: ENST00000592031.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.84G>A
  hgvsp: ENST00000535753.2:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.82G>A
  hgvsp: ENST00000602151.1:c.82G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.84G>A
  hgvsp: ENST00000593760.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.105G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.84G>A
  hgvsp: ENST00000455140.2:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.114G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.84G>A
  hgvsp: ENST00000248070.6:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+734C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro28Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

19-16552790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552790
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552790
    reference: chr 19
allele count: 7
allele frequency: 5.804023017096994e-5
allele num: 120606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.99C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.78C>T
  hgvsp: ENST00000596037.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.78C>T
  hgvsp: ENST00000593760.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.78C>T
  hgvsp: ENST00000597937.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.78C>T
  hgvsp: ENST00000248070.6:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.78C>T
  hgvsp: ENST00000602022.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.108C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.76C>T
  hgvsp: ENST00000602151.1:c.76C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+740G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.78C>T
  hgvsp: ENST00000455140.2:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.78C>T
  hgvsp: ENST00000592031.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.78C>T
  hgvsp: ENST00000594975.1:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.78C>T
  hgvsp: ENST00000535753.2:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.78C>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

19-16552805-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552805
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552805
    reference: chr 19
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.76-13T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.76-13T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.76-13T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.76-13T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.74-13T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.76-13T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.76-13T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.76-13T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.106-13T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.76-13T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+755A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.97-13T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.76-13T>C
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-16552806-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552806
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552806
    reference: chr 19
allele count: 1
allele frequency: 8.323622440486099e-6
allele num: 120140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.76-14G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.74-14G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.76-14G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.76-14G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.76-14G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.76-14G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+756C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.106-14G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.76-14G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.76-14G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.97-14G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.76-14G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.76-14G>T
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

19-16552810-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552810
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552810
    reference: chr 19
allele count: 125
allele frequency: 1.041267514119587e-3
allele num: 120046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.76-18C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.76-18C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.76-18C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+760G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.76-18C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.106-18C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.76-18C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.76-18C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.76-18C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.76-18C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.74-18C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.76-18C>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.97-18C>G
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12554
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8500
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12745
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

19-16552822-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552822
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552820
    reference: chr 19
allele count: 5
allele frequency: 4.179204279505182e-5
allele num: 119640
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.76-32_76-31delAA
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.76-32_76-31delAA
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.76-32_76-31delAA
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.76-32_76-31delAA
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.76-32_76-31delAA
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+775_294+776delTT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.76-32_76-31delAA
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.106-32_106-31delAA
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.76-32_76-31delAA
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.76-32_76-31delAA
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.76-32_76-31delAA
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.97-32_97-31delAA
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.74-32_74-31delAA
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: CTT
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

19-16552826-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552826
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552826
    reference: chr 19
allele count: 1
allele frequency: 8.368060785593547e-6
allele num: 119502
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.76-34A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.76-34A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+776T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.76-34A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.76-34A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.76-34A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.106-34A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.76-34A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.76-34A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.74-34A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.76-34A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.76-34A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.97-34A>G
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12643
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

19-16552839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552839
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552839
    reference: chr 19
allele count: 1
allele frequency: 8.452942469273554e-6
allele num: 118302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.76-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.76-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.76-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.97-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.76-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.74-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.76-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+789C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.76-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.106-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.76-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.76-47G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.76-47G>A
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

19-16552843-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552843
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552843
    reference: chr 19
allele count: 1
allele frequency: 8.494733265375467e-6
allele num: 117720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.106-51T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.76-51T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.76-51T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.76-51T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.76-51T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.76-51T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+793A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.76-51T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.76-51T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.74-51T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.76-51T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.76-51T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.97-51T>C
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

19-16552944-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552944
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552944
    reference: chr 19
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.75+45G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.75+45G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.75+45G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.75+45G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+894C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.105+45G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.75+45G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.96+45G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.75+45G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.75+45G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.75+45G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.73+45G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.75+45G>C
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

19-16552945-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552945
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552945
    reference: chr 19
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.75+44T>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.75+44T>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.75+44T>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+895A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.105+44T>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.75+44T>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.96+44T>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.75+44T>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.75+44T>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.75+44T>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.75+44T>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.75+44T>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.73+44T>A
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12846
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

19-16552962-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552962
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552962
    reference: chr 19
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.75+27T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.75+27T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.75+27T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.75+27T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.75+27T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.75+27T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+912A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.75+27T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.75+27T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.73+27T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.105+27T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.96+27T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.75+27T>C
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

19-16552964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552964
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552964
    reference: chr 19
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.105+25G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.75+25G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.75+25G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.75+25G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.75+25G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.73+25G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.75+25G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+914C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.96+25G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.75+25G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.75+25G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.75+25G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.75+25G>A
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/19-16552976-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552976
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552976
    reference: chr 19
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.96+13G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.75+13G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.75+13G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.75+13G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.75+13G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.75+13G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.75+13G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.75+13G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+926C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.73+13G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.105+13G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.75+13G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.75+13G>T
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12732
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

19-16552998-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16552998
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16552998
    reference: chr 19
allele count: 14
allele frequency: 1.159919799830983e-4
allele num: 120698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.66T>C
  hgvsp: ENST00000248070.6:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.96T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.66T>C
  hgvsp: ENST00000596037.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+948A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.87T>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.66T>C
  hgvsp: ENST00000594975.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.66T>C
  hgvsp: ENST00000455140.2:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.66T>C
  hgvsp: ENST00000535753.2:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.66T>C
  hgvsp: ENST00000597937.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.66T>C
  hgvsp: ENST00000593760.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.66T>C
  hgvsp: ENST00000592031.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.64T>C
  hgvsp: ENST00000602151.1:c.64T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.66T>C
  hgvsp: ENST00000602022.1:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28513
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12585
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr22Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

19-16553008-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553008
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553008
    reference: chr 19
allele count: 1
allele frequency: 8.29476268683953e-6
allele num: 120558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.77A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.56A>G
  hgvsp: ENSP00000472958.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.56A>G
  hgvsp: ENSP00000440103.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.56A>G
  hgvsp: ENSP00000472267.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.56A>G
  hgvsp: ENSP00000393313.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.56A>G
  hgvsp: ENSP00000471662.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.54A>G
  hgvsp: ENSP00000468866.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.56A>G
  hgvsp: ENSP00000471981.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.56A>G
  hgvsp: ENSP00000472135.1:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.56A>G
  hgvsp: ENSP00000248070.5:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+958T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.56A>G
  hgvsp: ENSP00000465286.2:p.Tyr19Cys
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.86A>G
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr19Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

19-16553013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553013
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553013
    reference: chr 19
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.51G>A
  hgvsp: ENST00000602022.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.51G>A
  hgvsp: ENST00000248070.6:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.51G>A
  hgvsp: ENST00000597937.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.51G>A
  hgvsp: ENST00000596037.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.51G>A
  hgvsp: ENST00000594975.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.51G>A
  hgvsp: ENST00000593760.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.51G>A
  hgvsp: ENST00000592031.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.72G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.51G>A
  hgvsp: ENST00000535753.2:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.51G>A
  hgvsp: ENST00000455140.2:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.81G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+963C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.49G>A
  hgvsp: ENST00000602151.1:c.49G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser17Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-16553017-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553017
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553017
    reference: chr 19
allele count: 3
allele frequency: 2.492563851177321e-5
allele num: 120358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.47A>G
  hgvsp: ENSP00000472135.1:p.Asn16Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+967T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.47A>G
  hgvsp: ENSP00000393313.1:p.Asn16Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.47A>G
  hgvsp: ENSP00000472958.1:p.Asn16Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.45A>G
  hgvsp: ENSP00000468866.1:p.Asn16Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.77A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.47A>G
  hgvsp: ENSP00000248070.5:p.Asn16Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.68A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.47A>G
  hgvsp: ENSP00000440103.1:p.Asn16Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.47A>G
  hgvsp: ENSP00000471981.1:p.Asn16Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.47A>G
  hgvsp: ENSP00000471662.1:p.Asn16Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.47A>G
  hgvsp: ENSP00000472267.1:p.Asn16Ser
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.47A>G
  hgvsp: ENSP00000465286.2:p.Asn16Ser
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn16Ser
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/19-16553020-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553020
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553020
    reference: chr 19
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.44G>T
  hgvsp: ENSP00000471662.1:p.Gly15Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.44G>T
  hgvsp: ENSP00000393313.1:p.Gly15Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.44G>T
  hgvsp: ENSP00000472267.1:p.Gly15Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.44G>T
  hgvsp: ENSP00000465286.2:p.Gly15Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.44G>T
  hgvsp: ENSP00000472135.1:p.Gly15Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.44G>T
  hgvsp: ENSP00000248070.5:p.Gly15Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.44G>T
  hgvsp: ENSP00000471981.1:p.Gly15Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.42G>T
  hgvsp: ENSP00000468866.1:p.Gly15Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.44G>T
  hgvsp: ENSP00000440103.1:p.Gly15Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.65G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.44G>T
  hgvsp: ENSP00000472958.1:p.Gly15Val
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.74G>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+970C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12437
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly15Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

19-16553021-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553021
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553021
    reference: chr 19
allele count: 6
allele frequency: 4.991597477579408e-5
allele num: 120202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.73G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.43G>A
  hgvsp: ENSP00000472267.1:p.Gly15Arg
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.43G>A
  hgvsp: ENSP00000471662.1:p.Gly15Arg
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.43G>A
  hgvsp: ENSP00000471981.1:p.Gly15Arg
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.43G>A
  hgvsp: ENSP00000440103.1:p.Gly15Arg
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.43G>A
  hgvsp: ENSP00000393313.1:p.Gly15Arg
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.43G>A
  hgvsp: ENSP00000472958.1:p.Gly15Arg
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.64G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.41G>A
  hgvsp: ENSP00000468866.1:p.Gly15Arg
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.43G>A
  hgvsp: ENSP00000248070.5:p.Gly15Arg
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.43G>A
  hgvsp: ENSP00000472135.1:p.Gly15Arg
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.43G>A
  hgvsp: ENSP00000465286.2:p.Gly15Arg
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+971C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12420
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly15Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-16553039-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553039
    reference: chr 19
allele count: 2
allele frequency: 1.673500125512509e-5
allele num: 119510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.34-9C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+989G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.55-9C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.34-9C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.34-9C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.34-9C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.34-9C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.34-9C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.64-9C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.34-9C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.34-9C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.34-9C>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.32-9C>A
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

19-16553043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553043
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553043
    reference: chr 19
allele count: 1
allele frequency: 8.379560575843403e-6
allele num: 119338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.55-13G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.34-13G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.34-13G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.34-13G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.34-13G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.34-13G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.34-13G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.34-13G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+993C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.34-13G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.64-13G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.32-13G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.34-13G>A
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11913
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26396
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP

19-16553052-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553052
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553052
    reference: chr 19
allele count: 2
allele frequency: 1.682481997442627e-5
allele num: 118872
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+1002T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.34-22A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.34-22A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.34-22A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.34-22A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.64-22A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.34-22A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.32-22A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.55-22A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.34-22A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.34-22A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.34-22A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.34-22A>G
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24562
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

19-16553064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553064
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553064
    reference: chr 19
allele count: 1
allele frequency: 8.459234946791412e-6
allele num: 118214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.34-34C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.34-34C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.34-34C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.34-34C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.34-34C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.32-34C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.34-34C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.34-34C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.64-34C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+1014G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.34-34C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.34-34C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.55-34C>T
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

19-16553076-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553076
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553076
    reference: chr 19
allele count: 3
allele frequency: 2.585716502042716e-5
allele num: 116022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.55-46A>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.34-46A>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.34-46A>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.34-46A>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+1026T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.34-46A>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.34-46A>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.34-46A>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.34-46A>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.34-46A>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.32-46A>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.64-46A>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.34-46A>T
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10384
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-16553076-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553076
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553076
    reference: chr 19
allele count: 1
allele frequency: 8.619055006809053e-6
allele num: 116022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.55-46A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.34-46A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.34-46A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+1026T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.34-46A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.34-46A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.34-46A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.34-46A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.64-46A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.34-46A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.34-46A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.34-46A>G
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.32-46A>G
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

19-16553078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553078
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553078
    reference: chr 19
allele count: 16
allele frequency: 1.387539891771888e-4
allele num: 115312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.34-48C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+1028G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.32-48C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.64-48C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.34-48C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.34-48C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.34-48C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.55-48C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.34-48C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.34-48C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.34-48C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.34-48C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.34-48C>T
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9636
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14784
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12485
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-16553080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553080
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553080
    reference: chr 19
allele count: 223
allele frequency: 1.952714535901926e-3
allele num: 114200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.55-50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.34-50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.34-50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.34-50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.34-50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.32-50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.34-50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.34-50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+1030G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.64-50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.34-50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.34-50C>T
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.34-50C>T
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14046
  bin: 2.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9016
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14651
  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 7
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-16553080-GGAAAAAAAGGGTTGCCCCCTCAATTTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553080
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553053
    reference: chr 19
allele count: 1
allele frequency: 8.756567425569177e-6
allele num: 114200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8989
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: GGAAAAAAAGGGTTGCCCCCTCAATTTT
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-16553081-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16553081
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16553080
    reference: chr 19
allele count: 16
allele frequency: 1.457672825334354e-4
allele num: 109764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.64-52delT
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.34-52delT
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.34-52delT
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.34-52delT
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.34-52delT
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.34-52delT
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.34-52delT
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.34-52delT
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.34-52delT
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000267703
  ensembl transcript: ENST00000587343
  gene symbol: CTD-2013N17.4
  hgvsc: ENST00000587343.1:n.294+1038delA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.55-52delT
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.34-52delT
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.32-52delT
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9086
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14692
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: GA
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

19-16582704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16582704
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16582704
    reference: chr 19
allele count: 1
allele frequency: 5.656108597285068e-4
allele num: 1768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.33+20G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.33+20G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.33+20G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.63+20G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.33+20G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.33+20G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.33+20G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.33+20G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.33+20G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.54+20G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.33+20G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.31+20G>A
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  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: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

19-16582719-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16582719
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16582719
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 1386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.63+5G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.33+5G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.33+5G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.33+5G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.33+5G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.31+5G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.33+5G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.33+5G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.33+5G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.33+5G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.33+5G>C
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.54+5G>C
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.33+5G>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ

19-16582724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 16582724
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 16582724
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 1282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472267
  ensembl transcript: ENST00000597937
  gene symbol: EPS15L1
  hgvsc: ENST00000597937.1:c.33G>A
  hgvsp: ENST00000597937.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000440103
  ensembl transcript: ENST00000535753
  gene symbol: EPS15L1
  hgvsc: ENST00000535753.2:c.33G>A
  hgvsp: ENST00000535753.2:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472958
  ensembl transcript: ENST00000593760
  gene symbol: EPS15L1
  hgvsc: ENST00000593760.1:c.33G>A
  hgvsp: ENST00000593760.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000597559
  gene symbol: EPS15L1
  hgvsc: ENST00000597559.1:n.63G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471981
  ensembl transcript: ENST00000602022
  gene symbol: EPS15L1
  hgvsc: ENST00000602022.1:c.33G>A
  hgvsp: ENST00000602022.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl transcript: ENST00000595845
  gene symbol: EPS15L1
  hgvsc: ENST00000595845.1:n.54G>A
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000465286
  ensembl transcript: ENST00000592031
  gene symbol: EPS15L1
  hgvsc: ENST00000592031.1:c.33G>A
  hgvsp: ENST00000592031.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000468866
  ensembl transcript: ENST00000602151
  gene symbol: EPS15L1
  hgvsc: ENST00000602151.1:c.31G>A
  hgvsp: ENST00000602151.1:c.31G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000393313
  ensembl transcript: ENST00000455140
  gene symbol: EPS15L1
  hgvsc: ENST00000455140.2:c.33G>A
  hgvsp: ENST00000455140.2:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000472135
  ensembl transcript: ENST00000596037
  gene symbol: EPS15L1
  hgvsc: ENST00000596037.1:c.33G>A
  hgvsp: ENST00000596037.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000471662
  ensembl transcript: ENST00000594975
  gene symbol: EPS15L1
  hgvsc: ENST00000594975.1:c.33G>A
  hgvsp: ENST00000594975.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127527
  ensembl protein: ENSP00000248070
  ensembl transcript: ENST00000248070
  gene symbol: EPS15L1
  hgvsc: ENST00000248070.6:c.33G>A
  hgvsp: ENST00000248070.6:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/24634
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  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: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.33G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53056
bin: 9.75e1
variant carriers: 34

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 604
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.098674344670385e-4
allele num: 66684
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: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.299857e6

FS
type: SiteQuality
SIO_000300: 8.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.77e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

MQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

GenotypeDepth
all individuals: 695
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 485
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3185
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53053
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 1.523e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.84e0

MQRankSum
type: SiteQuality
SIO_000300: -1.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.333e-1

DP
type: SiteQuality
SIO_000300: 7.297703e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.367e0

GenotypeDepth
all individuals: 655
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 625
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53054
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2967
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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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 frequency: 0.0e0
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num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 6.064281382656155e-5
allele num: 16490
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InbreedingCoeff
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MQRankSum
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QD
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DP
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.4e-2

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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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
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allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

South Asian
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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DP
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MQ
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QD
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GenotypeDepth
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variant carriers: 1

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: 9.75e1
variant carriers: 2

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

Other
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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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Latino
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South Asian
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allele num: 16490
num of homozygotes: 0

African
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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

QD
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SIO_000300: 1.062e1

DP
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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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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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: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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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

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: 1.551734839550618e-5
allele num: 64444
num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.478664192949907e-4
allele num: 8624
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VQSLOD
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SIO_000300: 1.07e0

MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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QD
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FS
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SIO_000300: 1.709e0

ClippingRankSum
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SIO_000300: -1.131e0

MQ
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SIO_000300: 5.967e1

ReadPosRankSum
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SIO_000300: 1.45e-1

GenotypeDepth
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variant carriers: 0

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: 1

Other
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allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 64442
num of homozygotes: 0

African
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South Asian
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European (Finnish)
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num of homozygotes: 0

Latino
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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FS
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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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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African
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allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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Other
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Latino
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allele num: 11514
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East Asian
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South Asian
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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QD
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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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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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.089019571237437e-4
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South Asian
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African
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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Other
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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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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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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FS
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9.750390015600624e-5
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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Latino
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Other
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FS
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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South Asian
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allele num: 12974
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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VQSLOD
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DP
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MQ
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QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Finnish)
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African
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Latino
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South Asian
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European (Non-Finnish)
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Other
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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VQSLOD
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MQRankSum
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DP
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 65274
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South Asian
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East Asian
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European (Finnish)
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African
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Other
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Latino
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MQRankSum
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QD
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ReadPosRankSum
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FS
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DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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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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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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Latino
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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DP
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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East Asian
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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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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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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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East Asian
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South Asian
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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QD
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DP
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FS
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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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Other
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South Asian
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European (Non-Finnish)
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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QD
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FS
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VQSLOD
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MQ
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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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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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South Asian
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Other
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MQRankSum
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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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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East Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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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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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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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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DP
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MQ
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BaseQRankSum
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QD
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GenotypeDepth
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European (Non-Finnish)
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VQSLOD
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MQ
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QD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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ReadPosRankSum
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QD
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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East Asian
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African
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BaseQRankSum
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MQ
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MQRankSum
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QD
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DP
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FS
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ClippingRankSum
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VQSLOD
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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 (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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Latino
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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MQ
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QD
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DP
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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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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African
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East Asian
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European (Non-Finnish)
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MQ
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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QD
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DP
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BaseQRankSum
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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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European (Finnish)
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South Asian
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East Asian
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DP
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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QD
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African
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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QD
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MQ
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VQSLOD
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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Latino
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South Asian
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European (Finnish)
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East Asian
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VQSLOD
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DP
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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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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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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South Asian
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Latino
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VQSLOD
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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South Asian
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African
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Latino
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East Asian
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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East Asian
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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QD
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InbreedingCoeff
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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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East Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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FS
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ClippingRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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African
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.508659706716553e-5
allele num: 66284
num of homozygotes: 0

East Asian
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DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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num of homozygotes: 0

Latino
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allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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African
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South Asian
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ReadPosRankSum
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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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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allele frequency: 5.858230814294083e-4
allele num: 10242
num of homozygotes: 0

East Asian
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European (Non-Finnish)
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allele count: 94
allele frequency: 1.418782262203037e-3
allele num: 66254
num of homozygotes: 0

Latino
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allele frequency: 4.322268326417704e-4
allele num: 11568
num of homozygotes: 0

South Asian
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Other
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allele frequency: 4.434589800443459e-3
allele num: 902
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European (Finnish)
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allele num: 6614
num of homozygotes: 0

QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.0483261257447e-5
allele num: 66134
num of homozygotes: 0

African
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allele count: 0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele num: 11562
num of homozygotes: 0

East Asian
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allele count: 0
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Other
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DP
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MQRankSum
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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SIO_000300: 9.399999999999999e-1

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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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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East Asian
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European (Non-Finnish)
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allele num: 66078
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South Asian
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ReadPosRankSum
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DP
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MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
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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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allele num: 11524
num of homozygotes: 0

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

African
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European (Finnish)
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South Asian
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East Asian
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Other
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QD
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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DP
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MQRankSum
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ClippingRankSum
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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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African
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allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele num: 16468
num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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East Asian
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Other
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DP
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MQ
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

South Asian
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allele num: 16464
num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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Latino
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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QD
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DP
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MQ
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VQSLOD
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ClippingRankSum
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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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European (Non-Finnish)
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allele count: 12
allele frequency: 1.808263765407914e-4
allele num: 66362
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.509889778046203e-5
allele num: 66230
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.614151272220286e-4
allele num: 11476
num of homozygotes: 0

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

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

FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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ClippingRankSum
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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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num of homozygotes: 0

African
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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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Other
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
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QD
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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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European (Non-Finnish)
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South Asian
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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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Other
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QD
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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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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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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South Asian
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Latino
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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DP
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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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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.529332599253686e-5
allele num: 65388
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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.001803245842517e-4
allele num: 9982
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 890
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

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

QD
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
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SIO_000300: 2.39e0

BaseQRankSum
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FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.723062e6

VQSLOD
type: SiteQuality
SIO_000300: 2.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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: 3.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.537751806858373e-5
allele num: 65030
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

InbreedingCoeff
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VQSLOD
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QD
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FS
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MQ
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: -6.74e-1

BaseQRankSum
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SIO_000300: -2.324e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3792
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.134108502836368e-5
allele num: 63814
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

QD
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.78e-1

BaseQRankSum
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SIO_000300: -1.237e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567054251418184e-5
allele num: 63814
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.78e-1

ClippingRankSum
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SIO_000300: -8.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -1.98e-1

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 4.861e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

BaseQRankSum
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SIO_000300: -1.237e0

DP
type: SiteQuality
SIO_000300: 1.469633e6

GenotypeDepth
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variant carriers: 0

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
all individuals: 4159
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

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

South Asian
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allele count: 12
allele frequency: 7.535795026375283e-4
allele num: 15924
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.732309051329779e-5
allele num: 63394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 1
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allele num: 876
num of homozygotes: 0

FS
type: SiteQuality
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DP
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 33

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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variant carriers: 2

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

Other
type: Population
allele count: 3
allele frequency: 3.424657534246575e-3
allele num: 876
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.065643648763853e-4
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.594286078693961e-5
allele num: 62724
num of homozygotes: 0

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

Latino
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allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 218
allele frequency: 1.376958059626074e-2
allele num: 15832
num of homozygotes: 7

East Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

Other
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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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European (Non-Finnish)
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allele count: 1
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allele num: 62724
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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BaseQRankSum
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SIO_000300: 6.71e-1

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

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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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.307531380753138e-4
allele num: 7648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6194
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African
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allele count: 2
allele frequency: 2.220741727737064e-4
allele num: 9006
num of homozygotes: 0

South Asian
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allele count: 5
allele frequency: 3.278688524590164e-4
allele num: 15250
num of homozygotes: 1

European (Non-Finnish)
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allele count: 7
allele frequency: 1.159554730983302e-4
allele num: 60368
num of homozygotes: 0

Latino
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allele frequency: 9.562057754828839e-5
allele num: 10458
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MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ClippingRankSum
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SIO_000300: 7.199999999999999e-2

BaseQRankSum
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SIO_000300: 6.1e-2

VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: -5.0e-3

DP
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FS
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 3.3e-2

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 7.062146892655367e-4
allele num: 1416
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 24
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.951e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.68e-2

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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SIO_000300: 6.0e-1

BaseQRankSum
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SIO_000300: -9.29e-1

DP
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SIO_000300: 3.573e4

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1132
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

Latino
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num of homozygotes: 0

Other
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QD
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SIO_000300: 5.33e0

InbreedingCoeff
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SIO_000300: -7.3e-2

ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 3.5294e4

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1940
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 289
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

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

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

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

Other
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 3.42e0

InbreedingCoeff
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SIO_000300: -7.59e-2