19-57335616-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335616
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335616
    reference: chr 19
allele count: 20
allele frequency: 1.688248104941502e-4
allele num: 118466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.16+14C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.16+14C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.16+14C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.394+14C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.16+14C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.394+14C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.16+14C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.16+14C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.16+14C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.16+14C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.16+14C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.394+14C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.394+14C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.16+14C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.16+14C>G
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

19-57335629-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335629
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335626
    reference: chr 19
allele count: 113
allele frequency: 9.401936965420841e-4
allele num: 120188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.14_16delAAG
  hgvsp: ENSP00000470467.1:p.Glu5del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.14_16delAAG
  hgvsp: ENSP00000472306.1:p.Glu5del
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.14_16delAAG
  hgvsp: ENSP00000221722.5:p.Glu5del
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.14_16delAAG
  hgvsp: ENSP00000470326.1:p.Glu5del
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.392_394delAAG
  hgvsp: ENSP00000472395.1:p.Glu131del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.14_16delAAG
  hgvsp: ENSP00000472402.1:p.Glu5del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.14_16delAAG
  hgvsp: ENSP00000473190.1:p.Glu5del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.14_16delAAG
  hgvsp: ENSP00000469185.1:p.Glu5del
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.392_394delAAG
  hgvsp: ENSP00000326581.7:p.Glu131del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.14_16delAAG
  hgvsp: ENSP00000471643.1:p.Glu5del
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.392_394delAAG
  hgvsp: ENSP00000469486.1:p.Glu131del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.14_16delAAG
  hgvsp: ENSP00000375589.3:p.Glu5del
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.14_16delAAG
  hgvsp: ENSP00000469173.1:p.Glu5del
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.392_394delAAG
  hgvsp: ENSP00000403051.2:p.Glu131del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.14_16delAAG
  hgvsp: ENSP00000468984.1:p.Glu5del
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Glu5del
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: CCTT
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-57335632-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335632
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335632
    reference: chr 19
allele count: 1
allele frequency: 8.3099270388406e-6
allele num: 120338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.14A>G
  hgvsp: ENSP00000472306.1:p.Glu5Gly
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.14A>G
  hgvsp: ENSP00000469173.1:p.Glu5Gly
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.14A>G
  hgvsp: ENSP00000471643.1:p.Glu5Gly
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.392A>G
  hgvsp: ENSP00000326581.7:p.Glu131Gly
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.392A>G
  hgvsp: ENSP00000472395.1:p.Glu131Gly
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.14A>G
  hgvsp: ENSP00000221722.5:p.Glu5Gly
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.14A>G
  hgvsp: ENSP00000472402.1:p.Glu5Gly
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.14A>G
  hgvsp: ENSP00000473190.1:p.Glu5Gly
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.14A>G
  hgvsp: ENSP00000469185.1:p.Glu5Gly
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.14A>G
  hgvsp: ENSP00000468984.1:p.Glu5Gly
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.14A>G
  hgvsp: ENSP00000470326.1:p.Glu5Gly
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.14A>G
  hgvsp: ENSP00000470467.1:p.Glu5Gly
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.14A>G
  hgvsp: ENSP00000375589.3:p.Glu5Gly
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.392A>G
  hgvsp: ENSP00000403051.2:p.Glu131Gly
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.392A>G
  hgvsp: ENSP00000469486.1:p.Glu131Gly
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13005
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu5Gly
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

19-57335634-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335634
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335634
    reference: chr 19
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.12A>G
  hgvsp: ENST00000593931.1:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.12A>G
  hgvsp: ENST00000221722.5:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.390A>G
  hgvsp: ENST00000599577.1:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.12A>G
  hgvsp: ENST00000391708.3:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.12A>G
  hgvsp: ENST00000599935.1:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.12A>G
  hgvsp: ENST00000593695.1:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.12A>G
  hgvsp: ENST00000598410.1:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.390A>G
  hgvsp: ENST00000326441.9:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.12A>G
  hgvsp: ENST00000593711.1:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.12A>G
  hgvsp: ENST00000600833.1:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.390A>G
  hgvsp: ENST00000599534.1:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.12A>G
  hgvsp: ENST00000601070.1:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.12A>G
  hgvsp: ENST00000595671.1:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.390A>G
  hgvsp: ENST00000423103.2:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.12A>G
  hgvsp: ENST00000597281.1:c.12A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9448
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro4Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-57335637-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335637
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335637
    reference: chr 19
allele count: 1
allele frequency: 8.276227364518158e-6
allele num: 120828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.387A>T
  hgvsp: ENSP00000403051.2:p.Gln129His
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.9A>T
  hgvsp: ENSP00000470326.1:p.Gln3His
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.9A>T
  hgvsp: ENSP00000221722.5:p.Gln3His
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.387A>T
  hgvsp: ENSP00000472395.1:p.Gln129His
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.9A>T
  hgvsp: ENSP00000472402.1:p.Gln3His
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.9A>T
  hgvsp: ENSP00000472306.1:p.Gln3His
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.9A>T
  hgvsp: ENSP00000469173.1:p.Gln3His
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.9A>T
  hgvsp: ENSP00000470467.1:p.Gln3His
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.9A>T
  hgvsp: ENSP00000471643.1:p.Gln3His
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.387A>T
  hgvsp: ENSP00000326581.7:p.Gln129His
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.9A>T
  hgvsp: ENSP00000469185.1:p.Gln3His
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.9A>T
  hgvsp: ENSP00000375589.3:p.Gln3His
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.9A>T
  hgvsp: ENSP00000468984.1:p.Gln3His
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.387A>T
  hgvsp: ENSP00000469486.1:p.Gln129His
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.9A>T
  hgvsp: ENSP00000473190.1:p.Gln3His
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln3His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-57335640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335640
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335640
    reference: chr 19
allele count: 6
allele frequency: 4.959661420447031e-5
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.384C>T
  hgvsp: ENST00000423103.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.6C>T
  hgvsp: ENST00000601070.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.6C>T
  hgvsp: ENST00000593695.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.6C>T
  hgvsp: ENST00000221722.5:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.384C>T
  hgvsp: ENST00000599534.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.384C>T
  hgvsp: ENST00000599577.1:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.6C>T
  hgvsp: ENST00000595671.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.6C>T
  hgvsp: ENST00000391708.3:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.6C>T
  hgvsp: ENST00000593711.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.6C>T
  hgvsp: ENST00000598410.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.384C>T
  hgvsp: ENST00000326441.9:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.6C>T
  hgvsp: ENST00000597281.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.6C>T
  hgvsp: ENST00000593931.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.6C>T
  hgvsp: ENST00000600833.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.6C>T
  hgvsp: ENST00000599935.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr2Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

19-57335642-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335642
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335642
    reference: chr 19
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.4T>A
  hgvsp: ENSP00000473190.1:p.Tyr2Asn
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.4T>A
  hgvsp: ENSP00000470326.1:p.Tyr2Asn
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.4T>A
  hgvsp: ENSP00000472402.1:p.Tyr2Asn
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.4T>A
  hgvsp: ENSP00000471643.1:p.Tyr2Asn
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.4T>A
  hgvsp: ENSP00000375589.3:p.Tyr2Asn
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.4T>A
  hgvsp: ENSP00000469185.1:p.Tyr2Asn
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.4T>A
  hgvsp: ENSP00000470467.1:p.Tyr2Asn
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.382T>A
  hgvsp: ENSP00000326581.7:p.Tyr128Asn
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.4T>A
  hgvsp: ENSP00000221722.5:p.Tyr2Asn
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.4T>A
  hgvsp: ENSP00000472306.1:p.Tyr2Asn
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.4T>A
  hgvsp: ENSP00000468984.1:p.Tyr2Asn
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.4T>A
  hgvsp: ENSP00000469173.1:p.Tyr2Asn
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.382T>A
  hgvsp: ENSP00000469486.1:p.Tyr128Asn
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.382T>A
  hgvsp: ENSP00000472395.1:p.Tyr128Asn
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.382T>A
  hgvsp: ENSP00000403051.2:p.Tyr128Asn
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr2Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-57335643-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335643
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335643
    reference: chr 19
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.3G>T
  hgvsp: ENSP00000470467.1:p.Met1?
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.3G>T
  hgvsp: ENSP00000375589.3:p.Met1?
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.3G>T
  hgvsp: ENSP00000469185.1:p.Met1?
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.381G>T
  hgvsp: ENSP00000403051.2:p.Met127Ile
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3G>T
  hgvsp: ENSP00000472402.1:p.Met1?
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.381G>T
  hgvsp: ENSP00000472395.1:p.Met127Ile
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.3G>T
  hgvsp: ENSP00000472306.1:p.Met1?
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.3G>T
  hgvsp: ENSP00000221722.5:p.Met1?
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.3G>T
  hgvsp: ENSP00000471643.1:p.Met1?
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.3G>T
  hgvsp: ENSP00000469173.1:p.Met1?
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.381G>T
  hgvsp: ENSP00000469486.1:p.Met127Ile
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3G>T
  hgvsp: ENSP00000473190.1:p.Met1?
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.3G>T
  hgvsp: ENSP00000470326.1:p.Met1?
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.3G>T
  hgvsp: ENSP00000468984.1:p.Met1?
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.381G>T
  hgvsp: ENSP00000326581.7:p.Met127Ile
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

19-57335645-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335645
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335642
    reference: chr 19
allele count: 18
allele frequency: 1.485663348685188e-4
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-3_-1delGAG
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-3_-1delGAG
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-3_-1delGAG
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.376_378delGAG
  hgvsp: ENSP00000326581.7:p.Glu126del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-3_-1delGAG
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-3_-1delGAG
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.376_378delGAG
  hgvsp: ENSP00000469486.1:p.Glu126del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-3_-1delGAG
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.-3_-1delGAG
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-3_-1delGAG
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.376_378delGAG
  hgvsp: ENSP00000472395.1:p.Glu126del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-3_-1delGAG
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-3_-1delGAG
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.376_378delGAG
  hgvsp: ENSP00000403051.2:p.Glu126del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-3_-1delGAG
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu126del
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: TCTC
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

19-57335648-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335648
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335648
    reference: chr 19
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.376G>C
  hgvsp: ENSP00000403051.2:p.Glu126Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-3G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.376G>C
  hgvsp: ENSP00000469486.1:p.Glu126Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-3G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.568G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.376G>C
  hgvsp: ENSP00000472395.1:p.Glu126Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.376G>C
  hgvsp: ENSP00000326581.7:p.Glu126Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu126Gln
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

19-57335666-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335666
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335666
    reference: chr 19
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-21C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-21C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.358C>T
  hgvsp: ENST00000599577.1:c.358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.550C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.358C>T
  hgvsp: ENST00000599534.1:c.358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.358C>T
  hgvsp: ENST00000423103.2:c.358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.358C>T
  hgvsp: ENST00000326441.9:c.358C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.571C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-21C>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu120Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/19-57335667-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335667
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335667
    reference: chr 19
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-22T>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.357T>G
  hgvsp: ENST00000423103.2:c.357T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-22T>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-22T>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.570T>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.357T>G
  hgvsp: ENST00000599577.1:c.357T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.-22T>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.357T>G
  hgvsp: ENST00000599534.1:c.357T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-22T>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-22T>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.357T>G
  hgvsp: ENST00000326441.9:c.357T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-22T>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-22T>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-22T>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.549T>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-22T>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-22T>G
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr119Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-57335668-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335668
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335668
    reference: chr 19
allele count: 6
allele frequency: 4.943316635908252e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-23C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.356C>G
  hgvsp: ENSP00000472395.1:p.Thr119Ser
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-23C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.569C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-23C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.356C>G
  hgvsp: ENSP00000326581.7:p.Thr119Ser
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-23C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-23C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-23C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-23C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.356C>G
  hgvsp: ENSP00000403051.2:p.Thr119Ser
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-23C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.356C>G
  hgvsp: ENSP00000469486.1:p.Thr119Ser
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.-23C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-23C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-23C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.548C>G
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr119Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-57335669-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335669
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335669
    reference: chr 19
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.-24A>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-24A>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.355A>C
  hgvsp: ENSP00000403051.2:p.Thr119Pro
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-24A>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-24A>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.355A>C
  hgvsp: ENSP00000472395.1:p.Thr119Pro
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.355A>C
  hgvsp: ENSP00000326581.7:p.Thr119Pro
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.547A>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.568A>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-24A>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.355A>C
  hgvsp: ENSP00000469486.1:p.Thr119Pro
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-24A>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-24A>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-24A>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-24A>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-24A>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-24A>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr119Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

19-57335672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335672
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335672
    reference: chr 19
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.352G>A
  hgvsp: ENSP00000326581.7:p.Val118Ile
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.352G>A
  hgvsp: ENSP00000472395.1:p.Val118Ile
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.352G>A
  hgvsp: ENSP00000403051.2:p.Val118Ile
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-27G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.352G>A
  hgvsp: ENSP00000469486.1:p.Val118Ile
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.565G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-27G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-27G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.544G>A
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val118Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

19-57335673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335673
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335673
    reference: chr 19
allele count: 13
allele frequency: 1.070981348447901e-4
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.351C>T
  hgvsp: ENST00000326441.9:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.351C>T
  hgvsp: ENST00000599577.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.351C>T
  hgvsp: ENST00000599534.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-28C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.351C>T
  hgvsp: ENST00000423103.2:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.564C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-28C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.543C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-28C>T
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13521
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu117Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-57335675-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335675
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335675
    reference: chr 19
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.349C>G
  hgvsp: ENSP00000472395.1:p.Leu117Val
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.349C>G
  hgvsp: ENSP00000403051.2:p.Leu117Val
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.349C>G
  hgvsp: ENSP00000326581.7:p.Leu117Val
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-30C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.349C>G
  hgvsp: ENSP00000469486.1:p.Leu117Val
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.541C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-30C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.562C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6644
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu117Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

19-57335679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335679
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335679
    reference: chr 19
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.537G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.345G>A
  hgvsp: ENST00000599534.1:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-34G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.345G>A
  hgvsp: ENST00000599577.1:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469173
  ensembl transcript: ENST00000593931
  gene symbol: ZIM2
  hgvsc: ENST00000593931.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.345G>A
  hgvsp: ENST00000326441.9:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.345G>A
  hgvsp: ENST00000423103.2:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.558G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-34G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-34G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu115Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

19-57335684-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335684
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335684
    reference: chr 19
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.340T>A
  hgvsp: ENSP00000472395.1:p.Cys114Ser
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-39T>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.553T>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-39T>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.340T>A
  hgvsp: ENSP00000326581.7:p.Cys114Ser
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-39T>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.340T>A
  hgvsp: ENSP00000469486.1:p.Cys114Ser
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.532T>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-39T>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-39T>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-39T>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.340T>A
  hgvsp: ENSP00000403051.2:p.Cys114Ser
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-39T>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-39T>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-39T>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-39T>A
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Cys114Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

19-57335691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335691
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335691
    reference: chr 19
allele count: 18
allele frequency: 1.482628535657216e-4
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.333G>A
  hgvsp: ENST00000423103.2:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.546G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.333G>A
  hgvsp: ENST00000599577.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-46G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.333G>A
  hgvsp: ENST00000326441.9:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.333G>A
  hgvsp: ENST00000599534.1:c.333G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-46G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.525G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-46G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro111Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum

19-57335692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335692
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335692
    reference: chr 19
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.332C>T
  hgvsp: ENSP00000469486.1:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.332C>T
  hgvsp: ENSP00000326581.7:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.545C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.332C>T
  hgvsp: ENSP00000403051.2:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-47C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.332C>T
  hgvsp: ENSP00000472395.1:p.Pro111Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-47C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-47C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.524C>T
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro111Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-57335697-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335697
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335697
    reference: chr 19
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-52A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-52A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-52A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.327A>G
  hgvsp: ENST00000599534.1:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.327A>G
  hgvsp: ENST00000423103.2:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-52A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.327A>G
  hgvsp: ENST00000599577.1:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-52A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-52A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.327A>G
  hgvsp: ENST00000326441.9:c.327A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-52A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.519A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.540A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-52A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-52A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-52A>G
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys109Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

19-57335699-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335699
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335699
    reference: chr 19
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-54A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.325A>G
  hgvsp: ENSP00000403051.2:p.Lys109Glu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.325A>G
  hgvsp: ENSP00000326581.7:p.Lys109Glu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-54A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-54A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-54A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-54A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-54A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.517A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.325A>G
  hgvsp: ENSP00000472395.1:p.Lys109Glu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-54A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-54A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.538A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.325A>G
  hgvsp: ENSP00000469486.1:p.Lys109Glu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-54A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-54A>G
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys109Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

19-57335704-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335704
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335704
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.320G>C
  hgvsp: ENSP00000469486.1:p.Arg107Pro
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-59G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-59G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.320G>C
  hgvsp: ENSP00000403051.2:p.Arg107Pro
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-59G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-59G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.512G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.533G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-59G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.320G>C
  hgvsp: ENSP00000326581.7:p.Arg107Pro
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-59G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.320G>C
  hgvsp: ENSP00000472395.1:p.Arg107Pro
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-59G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-59G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-59G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-59G>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg107Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-57335704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335704
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335704
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-59G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-59G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-59G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.320G>A
  hgvsp: ENSP00000403051.2:p.Arg107Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.533G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.512G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-59G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.320G>A
  hgvsp: ENSP00000472395.1:p.Arg107Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-59G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-59G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-59G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.320G>A
  hgvsp: ENSP00000326581.7:p.Arg107Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-59G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-59G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-59G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.320G>A
  hgvsp: ENSP00000469486.1:p.Arg107Gln
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg107Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

19-57335705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335705
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335705
    reference: chr 19
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.319C>T
  hgvsp: ENSP00000326581.7:p.Arg107Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-60C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-60C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-60C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.319C>T
  hgvsp: ENSP00000469486.1:p.Arg107Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-60C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.532C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.511C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-60C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-60C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.319C>T
  hgvsp: ENSP00000403051.2:p.Arg107Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.319C>T
  hgvsp: ENSP00000472395.1:p.Arg107Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-60C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-60C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-60C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-60C>T
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg107Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-57335708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335708
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335708
    reference: chr 19
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-63G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-63G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-63G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-63G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.316G>A
  hgvsp: ENSP00000472395.1:p.Val106Met
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.529G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-63G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-63G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.316G>A
  hgvsp: ENSP00000326581.7:p.Val106Met
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-63G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.316G>A
  hgvsp: ENSP00000469486.1:p.Val106Met
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.316G>A
  hgvsp: ENSP00000403051.2:p.Val106Met
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.508G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-63G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-63G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-63G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val106Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-57335710-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335710
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335710
    reference: chr 19
allele count: 8
allele frequency: 6.589460158476517e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.314G>A
  hgvsp: ENSP00000403051.2:p.Trp105Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.314G>A
  hgvsp: ENSP00000326581.7:p.Trp105Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-65G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.314G>A
  hgvsp: ENSP00000469486.1:p.Trp105Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-65G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.527G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-65G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-65G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-65G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.314G>A
  hgvsp: ENSP00000472395.1:p.Trp105Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-65G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-65G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-65G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-65G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-65G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.506G>A
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp105Ter
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

19-57335718-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335718
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335718
    reference: chr 19
allele count: 11
allele frequency: 9.060059961124106e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-73C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.306C>T
  hgvsp: ENST00000599534.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.519C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-73C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.306C>T
  hgvsp: ENST00000599577.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-73C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-73C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-73C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.498C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-73C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-73C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-73C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.306C>T
  hgvsp: ENST00000423103.2:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.306C>T
  hgvsp: ENST00000326441.9:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-73C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-73C>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu102Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

19-57335718-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335718
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335718
    reference: chr 19
allele count: 30
allele frequency: 2.470925443942938e-4
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-73C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-73C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-73C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.306C>A
  hgvsp: ENST00000326441.9:c.306C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-73C>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-73C>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-73C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-73C>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-73C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.306C>A
  hgvsp: ENST00000599534.1:c.306C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.306C>A
  hgvsp: ENST00000599577.1:c.306C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.306C>A
  hgvsp: ENST00000423103.2:c.306C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.498C>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.519C>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-73C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-73C>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu102Leu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-57335720-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335720
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335720
    reference: chr 19
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-75C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-75C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-75C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.517C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.304C>G
  hgvsp: ENSP00000472395.1:p.Leu102Val
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-75C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-75C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-75C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-75C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.496C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-75C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.304C>G
  hgvsp: ENSP00000403051.2:p.Leu102Val
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.304C>G
  hgvsp: ENSP00000326581.7:p.Leu102Val
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.304C>G
  hgvsp: ENSP00000469486.1:p.Leu102Val
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-75C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-75C>G
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu102Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-57335728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335728
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335728
    reference: chr 19
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-83C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.296C>T
  hgvsp: ENSP00000469486.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-83C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.296C>T
  hgvsp: ENSP00000403051.2:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-83C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-83C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-83C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-83C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.296C>T
  hgvsp: ENSP00000326581.7:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.296C>T
  hgvsp: ENSP00000472395.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.509C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-83C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.488C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-83C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-83C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-83C>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro99Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD

19-57335733-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335733
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335733
    reference: chr 19
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.291C>A
  hgvsp: ENST00000599577.1:c.291C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.291C>A
  hgvsp: ENST00000423103.2:c.291C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.291C>A
  hgvsp: ENST00000599534.1:c.291C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-88C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-88C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-88C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.483C>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.291C>A
  hgvsp: ENST00000326441.9:c.291C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.504C>A
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile97Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

19-57335735-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335735
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335735
    reference: chr 19
allele count: 22
allele frequency: 1.812011992224821e-4
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.289A>G
  hgvsp: ENSP00000469486.1:p.Ile97Val
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.289A>G
  hgvsp: ENSP00000326581.7:p.Ile97Val
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-90A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.481A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.502A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.289A>G
  hgvsp: ENSP00000472395.1:p.Ile97Val
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.289A>G
  hgvsp: ENSP00000403051.2:p.Ile97Val
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-90A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-90A>G
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile97Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-57335747-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335747
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335747
    reference: chr 19
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-102C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-102C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.277C>T
  hgvsp: ENSP00000469486.1:p.Gln93Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-102C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.277C>T
  hgvsp: ENSP00000403051.2:p.Gln93Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-102C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-102C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.277C>T
  hgvsp: ENSP00000326581.7:p.Gln93Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-102C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-102C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.277C>T
  hgvsp: ENSP00000472395.1:p.Gln93Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-102C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.469C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-102C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-102C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.490C>T
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln93Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-57335751-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335751
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335751
    reference: chr 19
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.273T>G
  hgvsp: ENST00000423103.2:c.273T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-106T>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-106T>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-106T>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.486T>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-106T>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.273T>G
  hgvsp: ENST00000326441.9:c.273T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.273T>G
  hgvsp: ENST00000599577.1:c.273T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-106T>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-106T>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.273T>G
  hgvsp: ENST00000599534.1:c.273T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-106T>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-106T>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-106T>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.465T>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-106T>G
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu91Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/19-57335755-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335755
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335754
    reference: chr 19
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-111delG
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.268delG
  hgvsp: ENSP00000469486.1:p.Val90SerfsTer6
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-111delG
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-111delG
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-111delG
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.481delG
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-111delG
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.460delG
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-111delG
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.268delG
  hgvsp: ENSP00000472395.1:p.Val90SerfsTer6
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-111delG
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.268delG
  hgvsp: ENSP00000326581.7:p.Val90SerfsTer6
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.268delG
  hgvsp: ENSP00000403051.2:p.Val90SerfsTer6
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-111delG
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-111delG
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-111delG
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 13508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val90SerfsTer6
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: AC
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

19-57335757-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335757
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335757
    reference: chr 19
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-112G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-112G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.267G>C
  hgvsp: ENSP00000472395.1:p.Leu89Phe
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-112G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-112G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-112G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.480G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.267G>C
  hgvsp: ENSP00000326581.7:p.Leu89Phe
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.267G>C
  hgvsp: ENSP00000469486.1:p.Leu89Phe
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.267G>C
  hgvsp: ENSP00000403051.2:p.Leu89Phe
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-112G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-112G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-112G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.459G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-112G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-112G>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu89Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

19-57335760-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335760
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335760
    reference: chr 19
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-115C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.264C>T
  hgvsp: ENST00000599534.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.264C>T
  hgvsp: ENST00000423103.2:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-115C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-115C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-115C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.264C>T
  hgvsp: ENST00000326441.9:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.264C>T
  hgvsp: ENST00000599577.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-115C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-115C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-115C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-115C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-115C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.477C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.456C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-115C>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu88Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

19-57335760-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335760
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335760
    reference: chr 19
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-115C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-115C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.264C>G
  hgvsp: ENST00000326441.9:c.264C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-115C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-115C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.264C>G
  hgvsp: ENST00000599577.1:c.264C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-115C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.264C>G
  hgvsp: ENST00000423103.2:c.264C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-115C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.264C>G
  hgvsp: ENST00000599534.1:c.264C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.456C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.477C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-115C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-115C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-115C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-115C>G
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu88Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-57335765-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335765
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335765
    reference: chr 19
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.259G>A
  hgvsp: ENSP00000326581.7:p.Glu87Lys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-120G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-120G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.259G>A
  hgvsp: ENSP00000469486.1:p.Glu87Lys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-120G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-120G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-120G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-120G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-120G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.451G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.259G>A
  hgvsp: ENSP00000403051.2:p.Glu87Lys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.472G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-120G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-120G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-120G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.259G>A
  hgvsp: ENSP00000472395.1:p.Glu87Lys
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu87Lys
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
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: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-57335785-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335785
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335785
    reference: chr 19
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-140G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.239G>T
  hgvsp: ENSP00000403051.2:p.Arg80Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.239G>T
  hgvsp: ENSP00000472395.1:p.Arg80Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-140G>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-140G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.239G>T
  hgvsp: ENSP00000469486.1:p.Arg80Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.239G>T
  hgvsp: ENSP00000326581.7:p.Arg80Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-140G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.452G>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-140G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-140G>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-140G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.431G>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-140G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-140G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-140G>T
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg80Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ

19-57335785-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335785
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335785
    reference: chr 19
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-140G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-140G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-140G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.239G>A
  hgvsp: ENSP00000469486.1:p.Arg80His
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.239G>A
  hgvsp: ENSP00000403051.2:p.Arg80His
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.239G>A
  hgvsp: ENSP00000472395.1:p.Arg80His
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-140G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-140G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.431G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-140G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-140G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-140G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.239G>A
  hgvsp: ENSP00000326581.7:p.Arg80His
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-140G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-140G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.452G>A
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg80His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

19-57335786-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335786
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335786
    reference: chr 19
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.430C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.238C>T
  hgvsp: ENSP00000403051.2:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.451C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-141C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-141C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-141C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.238C>T
  hgvsp: ENSP00000469486.1:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-141C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-141C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.238C>T
  hgvsp: ENSP00000326581.7:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-141C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-141C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.238C>T
  hgvsp: ENSP00000472395.1:p.Arg80Cys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-141C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-141C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-141C>T
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg80Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-57335793-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335793
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335793
    reference: chr 19
allele count: 7
allele frequency: 5.765492702533522e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.231G>A
  hgvsp: ENST00000599577.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.423G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-148G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.231G>A
  hgvsp: ENST00000423103.2:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.444G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-148G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-148G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-148G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-148G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-148G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-148G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-148G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.231G>A
  hgvsp: ENST00000326441.9:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.231G>A
  hgvsp: ENST00000599534.1:c.231G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-148G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-148G>A
  variant of: http://identifiers.org/hgnc/8826
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-148G>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

19-57335794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335794
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335794
    reference: chr 19
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-149C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.230C>T
  hgvsp: ENSP00000326581.7:p.Pro77Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.422C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-149C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-149C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.230C>T
  hgvsp: ENSP00000472395.1:p.Pro77Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.230C>T
  hgvsp: ENSP00000403051.2:p.Pro77Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-149C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-149C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-149C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-149C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.230C>T
  hgvsp: ENSP00000469486.1:p.Pro77Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.443C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-149C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-149C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-149C>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro77Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-57335799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335799
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335799
    reference: chr 19
allele count: 457
allele frequency: 3.764167105956774e-3
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.225G>A
  hgvsp: ENST00000599577.1:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.225G>A
  hgvsp: ENST00000326441.9:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-4G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.225G>A
  hgvsp: ENST00000599534.1:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-4G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-4G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-4G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-4G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-4G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-4G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-154G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-4G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-154G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-154G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-4G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.225G>A
  hgvsp: ENST00000423103.2:c.225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13519
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: c.-150-4G>A
num of homozygotes: 6
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD

19-57335803-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335803
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335803
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-8G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.221G>C
  hgvsp: ENSP00000326581.7:p.Trp74Ser
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-8G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-8G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-8G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.221G>C
  hgvsp: ENSP00000403051.2:p.Trp74Ser
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.221G>C
  hgvsp: ENSP00000469486.1:p.Trp74Ser
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-158G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-8G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.221G>C
  hgvsp: ENSP00000472395.1:p.Trp74Ser
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-8G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-158G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-8G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-8G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-158G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-8G>C
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Trp74Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-57335805-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335805
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335805
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-10T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-10T>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-160T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.219T>C
  hgvsp: ENST00000599534.1:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-10T>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-160T>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-10T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.219T>C
  hgvsp: ENST00000326441.9:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-10T>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-10T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.219T>C
  hgvsp: ENST00000599577.1:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-10T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.219T>C
  hgvsp: ENST00000423103.2:c.219T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-10T>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-160T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-10T>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp73Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

19-57335805-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335805
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335805
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-10T>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.219T>A
  hgvsp: ENSP00000326581.7:p.Asp73Glu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-160T>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.219T>A
  hgvsp: ENSP00000469486.1:p.Asp73Glu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-10T>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-160T>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-10T>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-10T>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-10T>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.219T>A
  hgvsp: ENSP00000472395.1:p.Asp73Glu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-10T>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.219T>A
  hgvsp: ENSP00000403051.2:p.Asp73Glu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-10T>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-160T>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-10T>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-10T>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp73Glu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-57335807-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335807
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335807
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-162G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-12G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.217G>C
  hgvsp: ENSP00000472395.1:p.Asp73His
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.217G>C
  hgvsp: ENSP00000326581.7:p.Asp73His
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-162G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-12G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-12G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.217G>C
  hgvsp: ENSP00000403051.2:p.Asp73His
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.217G>C
  hgvsp: ENSP00000469486.1:p.Asp73His
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-162G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-12G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-12G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-12G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-12G>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-12G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-12G>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp73His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

19-57335816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335816
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335816
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-171C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-171C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.208C>T
  hgvsp: ENSP00000403051.2:p.Leu70Phe
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-171C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-21C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-21C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-21C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.208C>T
  hgvsp: ENSP00000469486.1:p.Leu70Phe
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-21C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.208C>T
  hgvsp: ENSP00000326581.7:p.Leu70Phe
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.208C>T
  hgvsp: ENSP00000472395.1:p.Leu70Phe
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-21C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-21C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-21C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-21C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-21C>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu70Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

19-57335821-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335821
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335821
    reference: chr 19
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-26G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.203G>A
  hgvsp: ENSP00000469486.1:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.203G>A
  hgvsp: ENSP00000403051.2:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.203G>A
  hgvsp: ENSP00000326581.7:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-26G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.203G>A
  hgvsp: ENSP00000472395.1:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-26G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-176G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-26G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-26G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-176G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-176G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-26G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-26G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-26G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-26G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg68Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

19-57335822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335822
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335822
    reference: chr 19
allele count: 34
allele frequency: 2.800612839986161e-4
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-177C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-177C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-177C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.202C>T
  hgvsp: ENSP00000469486.1:p.Arg68Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-27C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-27C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.202C>T
  hgvsp: ENSP00000326581.7:p.Arg68Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-27C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.202C>T
  hgvsp: ENSP00000472395.1:p.Arg68Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-27C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-27C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-27C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-27C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.202C>T
  hgvsp: ENSP00000403051.2:p.Arg68Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-27C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-27C>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg68Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-57335823-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335823
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335823
    reference: chr 19
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-178C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-178C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-28C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-28C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-28C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.201C>G
  hgvsp: ENST00000599577.1:c.201C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.201C>G
  hgvsp: ENST00000423103.2:c.201C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.201C>G
  hgvsp: ENST00000599534.1:c.201C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-28C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.201C>G
  hgvsp: ENST00000326441.9:c.201C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-28C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-178C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-28C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-28C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-28C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-28C>G
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Leu67Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

19-57335829-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335829
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335829
    reference: chr 19
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.195C>G
  hgvsp: ENSP00000472395.1:p.Ile65Met
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-34C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-34C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-184C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.195C>G
  hgvsp: ENSP00000403051.2:p.Ile65Met
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.195C>G
  hgvsp: ENSP00000469486.1:p.Ile65Met
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-34C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-34C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-34C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-184C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.195C>G
  hgvsp: ENSP00000326581.7:p.Ile65Met
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-184C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-34C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-34C>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-34C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-34C>G
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile65Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

19-57335842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335842
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335842
    reference: chr 19
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.182G>A
  hgvsp: ENSP00000472395.1:p.Arg61Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-47G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-197G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.182G>A
  hgvsp: ENSP00000326581.7:p.Arg61Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-47G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-47G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-47G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.182G>A
  hgvsp: ENSP00000403051.2:p.Arg61Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-197G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-47G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-47G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-47G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-47G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-197G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.182G>A
  hgvsp: ENSP00000469486.1:p.Arg61Gln
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-47G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg61Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-57335845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335845
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335845
    reference: chr 19
allele count: 5
allele frequency: 4.118616144975288e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-50C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-50C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.179C>T
  hgvsp: ENSP00000326581.7:p.Pro60Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-50C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-50C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-50C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-200C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-200C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.179C>T
  hgvsp: ENSP00000403051.2:p.Pro60Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-200C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-50C>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.179C>T
  hgvsp: ENSP00000469486.1:p.Pro60Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-50C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.179C>T
  hgvsp: ENSP00000472395.1:p.Pro60Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-50C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-50C>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro60Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/19-57335852-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335852
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335852
    reference: chr 19
allele count: 3
allele frequency: 2.471169686985173e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.172G>T
  hgvsp: ENSP00000472395.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-57G>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-57G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-57G>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.172G>T
  hgvsp: ENSP00000403051.2:p.Val58Phe
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.172G>T
  hgvsp: ENSP00000469486.1:p.Val58Phe
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-207G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-207G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-57G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-207G>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-57G>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-57G>T
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-57G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.172G>T
  hgvsp: ENSP00000326581.7:p.Val58Phe
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-57G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-57G>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val58Phe
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-57335852-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335852
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335852
    reference: chr 19
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-57G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-57G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.172G>A
  hgvsp: ENSP00000472395.1:p.Val58Ile
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-207G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-57G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-57G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.172G>A
  hgvsp: ENSP00000326581.7:p.Val58Ile
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-207G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-57G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.172G>A
  hgvsp: ENSP00000403051.2:p.Val58Ile
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.172G>A
  hgvsp: ENSP00000469486.1:p.Val58Ile
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-57G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-57G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-57G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-207G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-57G>A
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val58Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

19-57335853-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335853
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335853
    reference: chr 19
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-58T>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.171T>C
  hgvsp: ENST00000599534.1:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.171T>C
  hgvsp: ENST00000423103.2:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.171T>C
  hgvsp: ENST00000326441.9:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-208T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.171T>C
  hgvsp: ENST00000599577.1:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-58T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-58T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-208T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-58T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-208T>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-58T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-58T>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-58T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-58T>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-58T>C
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe57Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

19-57335858-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335858
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335858
    reference: chr 19
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-63G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-63G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-63G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.166G>A
  hgvsp: ENSP00000326581.7:p.Glu56Lys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-63G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.166G>A
  hgvsp: ENSP00000469486.1:p.Glu56Lys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-213G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-213G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.166G>A
  hgvsp: ENSP00000403051.2:p.Glu56Lys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.166G>A
  hgvsp: ENSP00000472395.1:p.Glu56Lys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-63G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-63G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-63G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-63G>A
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-63G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-213G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu56Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

19-57335862-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335862
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335862
    reference: chr 19
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-67T>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.162T>C
  hgvsp: ENST00000599577.1:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.162T>C
  hgvsp: ENST00000423103.2:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-217T>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-67T>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-67T>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-67T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-67T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.162T>C
  hgvsp: ENST00000326441.9:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-67T>C
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-217T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-67T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-217T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-67T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.162T>C
  hgvsp: ENST00000599534.1:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-67T>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr54Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

19-57335863-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57335863
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57335863
    reference: chr 19
allele count: 9
allele frequency: 7.413386929375134e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.161A>G
  hgvsp: ENSP00000403051.2:p.Tyr54Cys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.-150-68A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.-150-68A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000596261
  gene symbol: PEG3
  hgvsc: ENST00000596261.1:n.421-68A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.161A>G
  hgvsp: ENSP00000472395.1:p.Tyr54Cys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.-150-68A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.161A>G
  hgvsp: ENSP00000326581.7:p.Tyr54Cys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.-150-68A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.161A>G
  hgvsp: ENSP00000469486.1:p.Tyr54Cys
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000470467
  ensembl transcript: ENST00000600833
  gene symbol: PEG3
  hgvsc: ENST00000600833.1:c.-218A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.-218A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl transcript: ENST00000594706
  gene symbol: PEG3
  hgvsc: ENST00000594706.1:n.442-68A>G
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.-150-68A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000471643
  ensembl transcript: ENST00000597281
  gene symbol: ZIM2
  hgvsc: ENST00000597281.1:c.-150-68A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.-218A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.-150-68A>G
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr54Cys
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 4313
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9443
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13381
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 613
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 957
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12552
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 9.75e1
variant carriers: 8

GenotypeDepth
all individuals: 119
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 318
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4197
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8278
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12192
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 19799
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3306
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.582017010935602e-4
allele num: 65840
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

DP
type: SiteQuality
SIO_000300: 2.160692e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

FS
type: SiteQuality
SIO_000300: 1.961e0

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

GenotypeDepth
all individuals: 189
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13447
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9434
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 323
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 8.75e1
variant carriers: 5

GenotypeDepth
all individuals: 572
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 7.25e1
variant carriers: 6

GenotypeDepth
all individuals: 6634
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5844
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2538
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 274
bin: 9.75e1
variant carriers: 64

GenotypeDepth
all individuals: 248
bin: 7.75e1
variant carriers: 9

GenotypeDepth
all individuals: 4307
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 86
bin: 9.25e1
variant carriers: 6

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

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3318
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5042
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1982
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12202
bin: 9.75e1
variant carriers: 112

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8363
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3120
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21236
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4195
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66278
num of homozygotes: 0

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

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

African
type: Population
allele count: 106
allele frequency: 1.018838908112265e-2
allele num: 10404
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15770
num of homozygotes: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.048038707447727e-4
allele num: 11574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

QD
type: SiteQuality
SIO_000300: 1.758e1

DP
type: SiteQuality
SIO_000300: 2.186016e6

MQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

MQ
type: SiteQuality
SIO_000300: 5.741e1

FS
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

GenotypeDepth
all individuals: 613
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 948
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 457
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9435
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1601
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2537
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4307
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6027
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6631
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21520
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8372
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12142
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1983
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5047
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507022725902707e-5
allele num: 66356
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.144e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

QD
type: SiteQuality
SIO_000300: 1.172e1

FS
type: SiteQuality
SIO_000300: 5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

DP
type: SiteQuality
SIO_000300: 2.183368e6

GenotypeDepth
all individuals: 1599
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13469
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2537
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 365
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13093
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 613
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 214
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 240
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 947
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4208
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21749
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5055
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8396
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12116
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.153e0

QD
type: SiteQuality
SIO_000300: 1.168e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.301e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.4e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 2.183752e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

GenotypeDepth
all individuals: 13471
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 613
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13131
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 947
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9448
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6273
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 439
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 214
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2537
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5055
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
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 (Non-Finnish)
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allele frequency: 0.0e0
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MQ
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QD
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VQSLOD
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 5.765904285988853e-4
allele num: 10406
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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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European (Finnish)
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Latino
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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DP
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
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African
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allele num: 10406
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Latino
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allele count: 0
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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East Asian
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 7.89e-1

DP
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QD
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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FS
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SIO_000300: 8.382999999999999e0

InbreedingCoeff
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SIO_000300: 2.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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variant carriers: 2

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

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

Latino
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East Asian
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African
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allele num: 10406
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European (Non-Finnish)
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allele num: 66598
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Other
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South Asian
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FS
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QD
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DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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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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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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Other
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South Asian
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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Latino
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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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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East Asian
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Latino
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African
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European (Non-Finnish)
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FS
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MQ
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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European (Non-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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BaseQRankSum
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QD
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DP
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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ClippingRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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East Asian
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Latino
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African
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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East Asian
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Other
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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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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Other
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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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African
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Latino
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BaseQRankSum
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VQSLOD
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FS
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MQ
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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InbreedingCoeff
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QD
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MQRankSum
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DP
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FS
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MQ
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ReadPosRankSum
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BaseQRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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Other
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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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DP
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66722
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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South Asian
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East Asian
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ClippingRankSum
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SIO_000300: -4.23e-1

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

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

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

Latino
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Other
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European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

East Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66734
num of homozygotes: 0

Latino
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allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele count: 0
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Other
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African
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East Asian
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South Asian
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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FS
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MQ
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QD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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Other
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FS
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SIO_000300: 5.12e-1

InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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DP
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SIO_000300: 2.19229e6

ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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num of homozygotes: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 8

East Asian
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allele count: 8
allele frequency: 9.244280101687081e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-1

BaseQRankSum
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SIO_000300: -4.408e0

DP
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SIO_000300: 2.192434e6

QD
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FS
type: SiteQuality
SIO_000300: 3.203e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

InbreedingCoeff
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SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 9
allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

InbreedingCoeff
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SIO_000300: 3.0e-4

MQRankSum
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DP
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SIO_000300: 2.19454e6

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -5.624e0

VQSLOD
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SIO_000300: 4.54e0

QD
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SIO_000300: 1.308e1

GenotypeDepth
all individuals: 13530
bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 28

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 30

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 29
allele frequency: 3.351051536861567e-3
allele num: 8654
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.308e1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.624e0

DP
type: SiteQuality
SIO_000300: 2.19454e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 2531
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 4313
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
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SIO_000300: -3.166e0

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

FS
type: SiteQuality
SIO_000300: 3.968e0

MQ
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 1.4e0

ClippingRankSum
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SIO_000300: -1.579e0

DP
type: SiteQuality
SIO_000300: 2.19094e6

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 16512
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

East Asian
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allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

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

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 22

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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Latino
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South Asian
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European (Finnish)
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East Asian
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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DP
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Non-Finnish)
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East Asian
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African
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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MQ
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ClippingRankSum
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FS
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ReadPosRankSum
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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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European (Non-Finnish)
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Other
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European (Finnish)
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South Asian
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East Asian
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Latino
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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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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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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South Asian
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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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MQ
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QD
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ReadPosRankSum
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DP
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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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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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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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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South Asian
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MQ
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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DP
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GenotypeDepth
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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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South Asian
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InbreedingCoeff
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MQ
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
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SIO_000300: 1.339e1

DP
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SIO_000300: 2.190404e6

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

MQRankSum
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SIO_000300: 6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 2

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3134
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
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SIO_000300: 4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

MQRankSum
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VQSLOD
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SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 3.432e0

InbreedingCoeff
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SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.294e1

BaseQRankSum
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SIO_000300: -3.82e-1

DP
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SIO_000300: 2.190173e6

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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: 2.19002e6

ReadPosRankSum
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SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

BaseQRankSum
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SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

FS
type: SiteQuality
SIO_000300: 1.1185e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.167e1

VQSLOD
type: SiteQuality
SIO_000300: -1.452e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeDepth
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bin: 7.5e0
variant carriers: 0

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
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SIO_000300: 2.19002e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 1.1185e1

VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.167e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.69e-1

DP
type: SiteQuality
SIO_000300: 2.190031e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 6.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

QD
type: SiteQuality
SIO_000300: 1.413e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.190041e6

InbreedingCoeff
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SIO_000300: 2.5e-3

VQSLOD
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SIO_000300: 3.9e0

MQRankSum
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SIO_000300: -1.04e-1

ClippingRankSum
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SIO_000300: -3.52e-1

BaseQRankSum
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SIO_000300: 1.95e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.134e0

VQSLOD
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QD
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DP
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MQRankSum
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MQ
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SIO_000300: 5.974e1

InbreedingCoeff
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SIO_000300: 3.2e-3

ReadPosRankSum
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SIO_000300: 9.05e-1

BaseQRankSum
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SIO_000300: 4.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

GenotypeDepth
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variant carriers: 370

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 430
allele frequency: 4.969949144706427e-2
allele num: 8652
num of homozygotes: 6

Other
type: Population
allele count: 3
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South Asian
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allele count: 9
allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

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

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

African
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allele count: 13
allele frequency: 1.249279261964251e-3
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 2.8e-2

BaseQRankSum
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SIO_000300: -3.905e0

ClippingRankSum
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SIO_000300: 4.0e-3

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 6.48e-1

VQSLOD
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SIO_000300: 5.32e0

MQ
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SIO_000300: 5.964e1

MQRankSum
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SIO_000300: 3.74e-1

DP
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SIO_000300: 2.212907e6

QD
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SIO_000300: 1.175e1

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
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allele count: 0
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Latino
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VQSLOD
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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MQRankSum
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DP
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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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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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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African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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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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MQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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MQ
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FS
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

South Asian
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African
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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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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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

BaseQRankSum
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VQSLOD
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QD
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DP
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InbreedingCoeff
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SIO_000300: 1.68e-2

MQRankSum
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SIO_000300: 4.19e-1

ClippingRankSum
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SIO_000300: -1.586e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 9.389999999999999e-1

ReadPosRankSum
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SIO_000300: 1.12e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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FS
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MQ
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SIO_000300: 5.898e1

InbreedingCoeff
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SIO_000300: 1.67e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

Other
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allele num: 908
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.456e1

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-2

InbreedingCoeff
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SIO_000300: 1.23e-2

MQRankSum
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FS
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SIO_000300: 2.926e0

ReadPosRankSum
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SIO_000300: 2.07e-1

DP
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SIO_000300: 2.178461e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

GenotypeDepth
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variant carriers: 15

GenotypeDepth
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variant carriers: 6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

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

African
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allele count: 6
allele frequency: 5.767012687427913e-4
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

East Asian
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allele count: 22
allele frequency: 2.542177027963947e-3
allele num: 8654
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 1.85e0

FS
type: SiteQuality
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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DP
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BaseQRankSum
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SIO_000300: 1.54e0

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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

South Asian
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Other
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FS
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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African
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allele frequency: 9.613535858488752e-5
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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BaseQRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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MQ
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SIO_000300: 5.94e1

DP
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MQRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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East Asian
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num of homozygotes: 0

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

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

South Asian
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European (Finnish)
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num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

African
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num of homozygotes: 0

Other
type: Population
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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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

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

South Asian
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allele count: 0
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num of homozygotes: 0

MQRankSum
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SIO_000300: 3.22e-1

InbreedingCoeff
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SIO_000300: 2.3e-3

BaseQRankSum
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ClippingRankSum
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VQSLOD
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FS
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QD
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ReadPosRankSum
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SIO_000300: -1.22e-1

DP
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SIO_000300: 2.175656e6

MQ
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SIO_000300: 5.978e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

South Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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East Asian
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allele count: 0
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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num of homozygotes: 0

African
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66734
num of homozygotes: 0

African
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East Asian
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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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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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South Asian
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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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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5074
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22557
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4225
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11709
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 8505
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993946114424431e-5
allele num: 66734
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.327e1

DP
type: SiteQuality
SIO_000300: 2.175306e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0