19-57325459-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325459
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325459
    reference: chr 19
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
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.397+4509G>A
  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.397+4509G>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.490+3655G>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.4351G>A
  hgvsp: ENSP00000472395.1:p.Asp1451Asn
  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.4351G>A
  hgvsp: ENSP00000469486.1:p.Asp1451Asn
  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.4351G>A
  hgvsp: ENSP00000403051.2:p.Asp1451Asn
  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.4351G>A
  hgvsp: ENSP00000326581.7:p.Asp1451Asn
  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.3973G>A
  hgvsp: ENSP00000472402.1:p.Asp1325Asn
  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.3979G>A
  hgvsp: ENSP00000473190.1:p.Asp1327Asn
  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.397+4509G>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.397+4509G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4509G>A
  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.397+4509G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp1451Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

19-57325464-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325464
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325464
    reference: chr 19
allele count: 5
allele frequency: 4.120109430106464e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3968A>T
  hgvsp: ENSP00000472402.1:p.Asp1323Val
  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.4346A>T
  hgvsp: ENSP00000326581.7:p.Asp1449Val
  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.4346A>T
  hgvsp: ENSP00000472395.1:p.Asp1449Val
  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.4346A>T
  hgvsp: ENSP00000469486.1:p.Asp1449Val
  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.397+4504A>T
  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.397+4504A>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.490+3650A>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4504A>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.397+4504A>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.4346A>T
  hgvsp: ENSP00000403051.2:p.Asp1449Val
  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.3974A>T
  hgvsp: ENSP00000473190.1:p.Asp1325Val
  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.397+4504A>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.397+4504A>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1449Val
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-57325472-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325472
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325472
    reference: chr 19
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.397+4496A>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.4338A>C
  hgvsp: ENST00000326441.9:c.4338A>C(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.4338A>C
  hgvsp: ENST00000599534.1:c.4338A>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: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.490+3642A>C
  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.3960A>C
  hgvsp: ENST00000593695.1:c.3960A>C(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.3966A>C
  hgvsp: ENST00000598410.1:c.3966A>C(p.%3D)
  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.397+4496A>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.397+4496A>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.4338A>C
  hgvsp: ENST00000423103.2:c.4338A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4496A>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.4338A>C
  hgvsp: ENST00000599577.1:c.4338A>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.397+4496A>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.397+4496A>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1446Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-57325480-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325480
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325480
    reference: chr 19
allele count: 34
allele frequency: 2.802367176038112e-4
allele num: 121326
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.3958G>A
  hgvsp: ENSP00000473190.1:p.Glu1320Lys
  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.3952G>A
  hgvsp: ENSP00000472402.1:p.Glu1318Lys
  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.397+4488G>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.4330G>A
  hgvsp: ENSP00000326581.7:p.Glu1444Lys
  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.397+4488G>A
  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.397+4488G>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.397+4488G>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.4330G>A
  hgvsp: ENSP00000472395.1:p.Glu1444Lys
  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.397+4488G>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.4330G>A
  hgvsp: ENSP00000403051.2:p.Glu1444Lys
  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.490+3634G>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.4330G>A
  hgvsp: ENSP00000469486.1:p.Glu1444Lys
  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.397+4488G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Glu1444Lys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

19-57325481-GGCCTCTCCATTTGGCTGTCCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325481
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325460
    reference: chr 19
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Gly1311_Ala1317del
  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
  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
  hgvsp: ENSP00000403051.2:p.Gly1437_Ala1443del
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Gly1437_Ala1443del
  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
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Gly1313_Ala1319del
  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
  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
  hgvsp: ENSP00000472395.1:p.Gly1437_Ala1443del
  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
  hgvsp: ENSP00000326581.7:p.Gly1437_Ala1443del
  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
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 13239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1437_Ala1443del
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: GGCCTCTCCATTTGGCTGTCCA
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

19-57325489-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325489
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325489
    reference: chr 19
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
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.4321G>C
  hgvsp: ENSP00000469486.1:p.Gly1441Arg
  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.397+4479G>C
  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.4321G>C
  hgvsp: ENSP00000326581.7:p.Gly1441Arg
  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.397+4479G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3949G>C
  hgvsp: ENSP00000473190.1:p.Gly1317Arg
  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.397+4479G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4479G>C
  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.397+4479G>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.4321G>C
  hgvsp: ENSP00000472395.1:p.Gly1441Arg
  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.397+4479G>C
  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.3943G>C
  hgvsp: ENSP00000472402.1:p.Gly1315Arg
  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.490+3625G>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.4321G>C
  hgvsp: ENSP00000403051.2:p.Gly1441Arg
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1441Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-57325490-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325490
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325490
    reference: chr 19
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.4320T>C
  hgvsp: ENST00000326441.9:c.4320T>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.397+4478T>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.4320T>C
  hgvsp: ENST00000599534.1:c.4320T>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.397+4478T>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.4320T>C
  hgvsp: ENST00000423103.2:c.4320T>C(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.3948T>C
  hgvsp: ENST00000598410.1:c.3948T>C(p.%3D)
  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.397+4478T>C
  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.3942T>C
  hgvsp: ENST00000593695.1:c.3942T>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.397+4478T>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.490+3624T>C
  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.397+4478T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4478T>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.4320T>C
  hgvsp: ENST00000599577.1:c.4320T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn1440Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-57325492-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325492
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325492
    reference: chr 19
allele count: 2
allele frequency: 1.649457328538911e-5
allele num: 121252
alternate allele: C
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.490+3622A>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.4318A>G
  hgvsp: ENSP00000326581.7:p.Asn1440Asp
  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.4318A>G
  hgvsp: ENSP00000472395.1:p.Asn1440Asp
  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.3946A>G
  hgvsp: ENSP00000473190.1:p.Asn1316Asp
  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.397+4476A>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.397+4476A>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.397+4476A>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.397+4476A>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.397+4476A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4476A>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.4318A>G
  hgvsp: ENSP00000469486.1:p.Asn1440Asp
  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.3940A>G
  hgvsp: ENSP00000472402.1:p.Asn1314Asp
  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.4318A>G
  hgvsp: ENSP00000403051.2:p.Asn1440Asp
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1440Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

19-57325499-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325499
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325499
    reference: chr 19
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4469A>G
  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.4311A>G
  hgvsp: ENST00000599577.1:c.4311A>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.3939A>G
  hgvsp: ENST00000598410.1:c.3939A>G(p.%3D)
  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.397+4469A>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.4311A>G
  hgvsp: ENST00000599534.1:c.4311A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3933A>G
  hgvsp: ENST00000593695.1:c.3933A>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.4311A>G
  hgvsp: ENST00000326441.9:c.4311A>G(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.397+4469A>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.397+4469A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4469A>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.4311A>G
  hgvsp: ENST00000423103.2:c.4311A>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.490+3615A>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.397+4469A>G
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1437Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-57325504-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325504
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325504
    reference: chr 19
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
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.397+4464G>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.4306G>T
  hgvsp: ENSP00000403051.2:p.Ala1436Ser
  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.4306G>T
  hgvsp: ENSP00000469486.1:p.Ala1436Ser
  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.3928G>T
  hgvsp: ENSP00000472402.1:p.Ala1310Ser
  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.397+4464G>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.397+4464G>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.4306G>T
  hgvsp: ENSP00000326581.7:p.Ala1436Ser
  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.3934G>T
  hgvsp: ENSP00000473190.1:p.Ala1312Ser
  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.4306G>T
  hgvsp: ENSP00000472395.1:p.Ala1436Ser
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4464G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4464G>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.490+3610G>T
  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.397+4464G>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1436Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

19-57325509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325509
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325509
    reference: chr 19
allele count: 17
allele frequency: 1.404099971918001e-4
allele num: 121074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.397+4459G>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.4301G>A
  hgvsp: ENSP00000472395.1:p.Gly1434Glu
  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.397+4459G>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.397+4459G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3929G>A
  hgvsp: ENSP00000473190.1:p.Gly1310Glu
  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.397+4459G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4459G>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.4301G>A
  hgvsp: ENSP00000326581.7:p.Gly1434Glu
  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.490+3605G>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.4301G>A
  hgvsp: ENSP00000469486.1:p.Gly1434Glu
  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.3923G>A
  hgvsp: ENSP00000472402.1:p.Gly1308Glu
  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.4301G>A
  hgvsp: ENSP00000403051.2:p.Gly1434Glu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4459G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1434Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

19-57325512-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325512
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325512
    reference: chr 19
allele count: 6
allele frequency: 4.95564695971059e-5
allele num: 121074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3920T>C
  hgvsp: ENSP00000472402.1:p.Ile1307Thr
  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.4298T>C
  hgvsp: ENSP00000469486.1:p.Ile1433Thr
  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.4298T>C
  hgvsp: ENSP00000403051.2:p.Ile1433Thr
  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.397+4456T>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.4298T>C
  hgvsp: ENSP00000472395.1:p.Ile1433Thr
  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.4298T>C
  hgvsp: ENSP00000326581.7:p.Ile1433Thr
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4456T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3926T>C
  hgvsp: ENSP00000473190.1:p.Ile1309Thr
  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.397+4456T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4456T>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.397+4456T>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.397+4456T>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.490+3602T>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile1433Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

19-57325524-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325524
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325524
    reference: chr 19
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4444C>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.397+4444C>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.4286C>T
  hgvsp: ENSP00000326581.7:p.Ala1429Val
  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.490+3590C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4444C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3914C>T
  hgvsp: ENSP00000473190.1:p.Ala1305Val
  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.4286C>T
  hgvsp: ENSP00000403051.2:p.Ala1429Val
  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.397+4444C>T
  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.3908C>T
  hgvsp: ENSP00000472402.1:p.Ala1303Val
  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.397+4444C>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.4286C>T
  hgvsp: ENSP00000472395.1:p.Ala1429Val
  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.4286C>T
  hgvsp: ENSP00000469486.1:p.Ala1429Val
  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.397+4444C>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1429Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

19-57325528-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325528
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325528
    reference: chr 19
allele count: 3
allele frequency: 2.479256884069948e-5
allele num: 121004
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.4282G>A
  hgvsp: ENSP00000326581.7:p.Glu1428Lys
  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.4282G>A
  hgvsp: ENSP00000403051.2:p.Glu1428Lys
  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.4282G>A
  hgvsp: ENSP00000472395.1:p.Glu1428Lys
  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.397+4440G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3910G>A
  hgvsp: ENSP00000473190.1:p.Glu1304Lys
  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.3904G>A
  hgvsp: ENSP00000472402.1:p.Glu1302Lys
  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.397+4440G>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.397+4440G>A
  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.397+4440G>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.4282G>A
  hgvsp: ENSP00000469486.1:p.Glu1428Lys
  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.397+4440G>A
  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.397+4440G>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.490+3586G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1428Lys
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

19-57325537-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325537
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325537
    reference: chr 19
allele count: 69
allele frequency: 5.703704928331708e-4
allele num: 120974
alternate allele: C
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.397+4431C>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.397+4431C>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.397+4431C>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.4273C>G
  hgvsp: ENSP00000469486.1:p.Pro1425Ala
  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.3901C>G
  hgvsp: ENSP00000473190.1:p.Pro1301Ala
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4431C>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.4273C>G
  hgvsp: ENSP00000403051.2:p.Pro1425Ala
  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.4273C>G
  hgvsp: ENSP00000326581.7:p.Pro1425Ala
  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.3895C>G
  hgvsp: ENSP00000472402.1:p.Pro1299Ala
  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.490+3577C>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.4273C>G
  hgvsp: ENSP00000472395.1:p.Pro1425Ala
  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.397+4431C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4431C>G
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13151
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26891
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1425Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

19-57325545-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325545
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325545
    reference: chr 19
allele count: 501
allele frequency: 4.143783497651029e-3
allele num: 120904
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.397+4423C>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.397+4423C>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.4265C>G
  hgvsp: ENSP00000469486.1:p.Ala1422Gly
  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.397+4423C>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3893C>G
  hgvsp: ENSP00000473190.1:p.Ala1298Gly
  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.397+4423C>G
  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.3887C>G
  hgvsp: ENSP00000472402.1:p.Ala1296Gly
  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.4265C>G
  hgvsp: ENSP00000472395.1:p.Ala1422Gly
  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.490+3569C>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.4265C>G
  hgvsp: ENSP00000326581.7:p.Ala1422Gly
  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.4265C>G
  hgvsp: ENSP00000403051.2:p.Ala1422Gly
  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.397+4423C>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.397+4423C>G
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.75e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26521
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
hgvs: p.Ala1422Gly
num of homozygotes: 3
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

19-57325552-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325552
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325552
    reference: chr 19
allele count: 3
allele frequency: 2.482210822439186e-5
allele num: 120860
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.4258G>A
  hgvsp: ENSP00000403051.2:p.Gly1420Arg
  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.490+3562G>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.4258G>A
  hgvsp: ENSP00000472395.1:p.Gly1420Arg
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4416G>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.397+4416G>A
  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.397+4416G>A
  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.3880G>A
  hgvsp: ENSP00000472402.1:p.Gly1294Arg
  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.4258G>A
  hgvsp: ENSP00000469486.1:p.Gly1420Arg
  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.397+4416G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3886G>A
  hgvsp: ENSP00000473190.1:p.Gly1296Arg
  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.397+4416G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4416G>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.4258G>A
  hgvsp: ENSP00000326581.7:p.Gly1420Arg
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1420Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-57325555-T-TTGGCTCAGCAGCCTCCACTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325555
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325576
    reference: chr 19
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: TTGGCTCAGCAGCCTCCACTTC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsp: ENSP00000403051.2:p.Glu1412_Pro1418dup
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Glu1288_Pro1294dup
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsp: ENSP00000472395.1:p.Glu1412_Pro1418dup
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Glu1286_Pro1292dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsp: ENSP00000326581.7:p.Glu1412_Pro1418dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Glu1412_Pro1418dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  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
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1412_Pro1418dup
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

19-57325555-TTGGCTCAGCAGCCTCCACTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325555
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325534
    reference: chr 19
allele count: 55
allele frequency: 4.552527894580009e-4
allele num: 120812
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Glu1412_Pro1418del
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  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
  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
  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
  hgvsp: ENSP00000403051.2:p.Glu1412_Pro1418del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Glu1286_Pro1292del
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Glu1288_Pro1294del
  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
  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
  hgvsp: ENSP00000472395.1:p.Glu1412_Pro1418del
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsp: ENSP00000326581.7:p.Glu1412_Pro1418del
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Glu1412_Pro1418del
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: TTGGCTCAGCAGCCTCCACTTC
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-57325562-AGCAGCCTCCACTTCTGGCTCAGCAGCCTCCACTTCTGGCTCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325562
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325520
    reference: chr 19
allele count: 1
allele frequency: 8.29476268683953e-6
allele num: 120558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Glu1405_Pro1418del
  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
  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
  hgvsp: ENSP00000472395.1:p.Glu1405_Pro1418del
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Glu1279_Pro1292del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsp: ENSP00000403051.2:p.Glu1405_Pro1418del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Glu1281_Pro1294del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsp: ENSP00000326581.7:p.Glu1405_Pro1418del
  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
  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
  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
  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
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1405_Pro1418del
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: AGCAGCCTCCACTTCTGGCTCAGCAGCCTCCACTTCTGGCTCG
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-57325727-A-ATCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325727
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325730
    reference: chr 19
allele count: 766
allele frequency: 6.37154597328276e-3
allele num: 120222
alternate allele: ATCT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3708_3710dupAGA
  hgvsp: ENSP00000473190.1:p.Glu1236dup
  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.490+3384_490+3386dupAGA
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.4080_4082dupAGA
  hgvsp: ENSP00000326581.7:p.Glu1360dup
  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.397+4238_397+4240dupAGA
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.4080_4082dupAGA
  hgvsp: ENSP00000472395.1:p.Glu1360dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.4080_4082dupAGA
  hgvsp: ENSP00000469486.1:p.Glu1360dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.4080_4082dupAGA
  hgvsp: ENSP00000403051.2:p.Glu1360dup
  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.397+4238_397+4240dupAGA
  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.397+4238_397+4240dupAGA
  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.397+4238_397+4240dupAGA
  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.397+4238_397+4240dupAGA
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3702_3704dupAGA
  hgvsp: ENSP00000472402.1:p.Glu1234dup
  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.397+4238_397+4240dupAGA
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 4.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 3.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 24670
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 5.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 3.25e1
  variant carriers: 75
genotype quality: GenotypeQuality
hgvs: p.Glu1360dup
num of homozygotes: 5
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

19-57325564-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325564
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325564
    reference: chr 19
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  hgvsc: ENST00000601070.1:c.397+4404G>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.397+4404G>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.4246G>C
  hgvsp: ENSP00000472395.1:p.Ala1416Pro
  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.3874G>C
  hgvsp: ENSP00000473190.1:p.Ala1292Pro
  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.4246G>C
  hgvsp: ENSP00000326581.7:p.Ala1416Pro
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4404G>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.4246G>C
  hgvsp: ENSP00000403051.2:p.Ala1416Pro
  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.397+4404G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4404G>C
  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.3868G>C
  hgvsp: ENSP00000472402.1:p.Ala1290Pro
  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.4246G>C
  hgvsp: ENSP00000469486.1:p.Ala1416Pro
  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.397+4404G>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.490+3550G>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1416Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

19-57325580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325580
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325580
    reference: chr 19
allele count: 4
allele frequency: 3.324633874694549e-5
allele num: 120314
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.397+4388G>A
  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.3852G>A
  hgvsp: ENST00000593695.1:c.3852G>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.4230G>A
  hgvsp: ENST00000326441.9:c.4230G>A(p.%3D)
  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.397+4388G>A
  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.397+4388G>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.4230G>A
  hgvsp: ENST00000423103.2:c.4230G>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.4230G>A
  hgvsp: ENST00000599577.1:c.4230G>A(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.490+3534G>A
  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.397+4388G>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.4230G>A
  hgvsp: ENST00000599534.1:c.4230G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4388G>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.397+4388G>A
  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.3858G>A
  hgvsp: ENST00000598410.1:c.3858G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1410Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/19-57325582-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325582
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325581
    reference: chr 19
allele count: 1
allele frequency: 8.319329129299013e-6
allele num: 120202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000221722
  ensembl transcript: ENST00000221722
  gene symbol: ZIM2
  hgvsc: ENST00000221722.5:c.397+4385delT
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3855delT
  hgvsp: ENSP00000473190.1:p.Glu1286SerfsTer91
  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.397+4385delT
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.4227delT
  hgvsp: ENSP00000469486.1:p.Glu1410SerfsTer91
  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.4227delT
  hgvsp: ENSP00000326581.7:p.Glu1410SerfsTer91
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4385delT
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3849delT
  hgvsp: ENSP00000472402.1:p.Glu1284SerfsTer91
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.4227delT
  hgvsp: ENSP00000472395.1:p.Glu1410SerfsTer91
  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.4227delT
  hgvsp: ENSP00000403051.2:p.Glu1410SerfsTer91
  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.490+3531delT
  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.397+4385delT
  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.397+4385delT
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4385delT
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1410SerfsTer91
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: CA
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

19-57325583-A-AGCAGCCTCCACTTCTGGCTCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325583
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325604
    reference: chr 19
allele count: 147
allele frequency: 1.224367410171411e-3
allele num: 120062
alternate allele: AGCAGCCTCCACTTCTGGCTCG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsp: ENSP00000403051.2:p.Glu1403_Ala1409dup
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Glu1403_Ala1409dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsp: ENSP00000472395.1:p.Glu1403_Ala1409dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Glu1279_Ala1285dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Glu1277_Ala1283dup
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsp: ENSP00000326581.7:p.Glu1403_Ala1409dup
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12833
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26353
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 4.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
hgvs: p.Glu1403_Ala1409dup
num of homozygotes: 1
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-57325583-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325583
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325583
    reference: chr 19
allele count: 16
allele frequency: 1.33264480018657e-4
allele num: 120062
alternate allele: G
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.397+4385T>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.397+4385T>C
  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.397+4385T>C
  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.3855T>C
  hgvsp: ENST00000598410.1:c.3855T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3849T>C
  hgvsp: ENST00000593695.1:c.3849T>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.4227T>C
  hgvsp: ENST00000326441.9:c.4227T>C(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.4227T>C
  hgvsp: ENST00000599534.1:c.4227T>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.4227T>C
  hgvsp: ENST00000423103.2:c.4227T>C(p.%3D)
  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.397+4385T>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.4227T>C
  hgvsp: ENST00000599577.1:c.4227T>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: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.490+3531T>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.397+4385T>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.397+4385T>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26353
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1409Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD

19-57325583-AGCAGCCTCCACTTCTGGCTCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325583
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325562
    reference: chr 19
allele count: 9
allele frequency: 7.496127001049458e-5
allele num: 120062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsp: ENSP00000326581.7:p.Glu1412_Pro1418del
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Glu1286_Pro1292del
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Glu1288_Pro1294del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsp: ENSP00000472395.1:p.Glu1412_Pro1418del
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Glu1412_Pro1418del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsp: ENSP00000403051.2:p.Glu1412_Pro1418del
  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
  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
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12833
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1412_Pro1418del
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: AGCAGCCTCCACTTCTGGCTCG
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

19-57325584-GCAGCCTCCACTTCTGGCTCGGCAGCCTCCACTTCTGGCTCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325584
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325543
    reference: chr 19
allele count: 1
allele frequency: 8.320575118152166e-6
allele num: 120184
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Glu1270Ter
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Glu1396Ter
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsp: ENSP00000403051.2:p.Glu1396Ter
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsp: ENSP00000472395.1:p.Glu1396Ter
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Glu1272Ter
  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
  hgvsp: ENSP00000326581.7:p.Glu1396Ter
  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
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1396Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: GCAGCCTCCACTTCTGGCTCGGCAGCCTCCACTTCTGGCTCA
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

19-57325587-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325587
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325587
    reference: chr 19
allele count: 7
allele frequency: 5.824111822947e-5
allele num: 120190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3851C>T
  hgvsp: ENSP00000473190.1:p.Ala1284Val
  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.397+4381C>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.4223C>T
  hgvsp: ENSP00000472395.1:p.Ala1408Val
  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.397+4381C>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.4223C>T
  hgvsp: ENSP00000403051.2:p.Ala1408Val
  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.4223C>T
  hgvsp: ENSP00000469486.1:p.Ala1408Val
  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.4223C>T
  hgvsp: ENSP00000326581.7:p.Ala1408Val
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4381C>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.397+4381C>T
  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.3845C>T
  hgvsp: ENSP00000472402.1:p.Ala1282Val
  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.397+4381C>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.490+3527C>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.397+4381C>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1408Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-57325593-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325593
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325593
    reference: chr 19
allele count: 1
allele frequency: 8.33152816889674e-6
allele num: 120026
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.4217T>G
  hgvsp: ENSP00000403051.2:p.Val1406Gly
  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.397+4375T>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.4217T>G
  hgvsp: ENSP00000326581.7:p.Val1406Gly
  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.3839T>G
  hgvsp: ENSP00000472402.1:p.Val1280Gly
  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.397+4375T>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.397+4375T>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.397+4375T>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.4217T>G
  hgvsp: ENSP00000472395.1:p.Val1406Gly
  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.3845T>G
  hgvsp: ENSP00000473190.1:p.Val1282Gly
  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.4217T>G
  hgvsp: ENSP00000469486.1:p.Val1406Gly
  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.397+4375T>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.490+3521T>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.397+4375T>G
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1406Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-57325594-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325594
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325594
    reference: chr 19
allele count: 3
allele frequency: 2.500708534084657e-5
allele num: 119966
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.4216G>T
  hgvsp: ENSP00000403051.2:p.Val1406Leu
  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.4216G>T
  hgvsp: ENSP00000469486.1:p.Val1406Leu
  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.397+4374G>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.490+3520G>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.4216G>T
  hgvsp: ENSP00000472395.1:p.Val1406Leu
  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.3838G>T
  hgvsp: ENSP00000472402.1:p.Val1280Leu
  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.4216G>T
  hgvsp: ENSP00000326581.7:p.Val1406Leu
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4374G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4374G>T
  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.397+4374G>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.397+4374G>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.397+4374G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3844G>T
  hgvsp: ENSP00000473190.1:p.Val1282Leu
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1406Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-57325594-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325594
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325594
    reference: chr 19
allele count: 1
allele frequency: 8.335695113615524e-6
allele num: 119966
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.397+4374G>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.490+3520G>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.397+4374G>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.4216G>A
  hgvsp: ENSP00000472395.1:p.Val1406Met
  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.4216G>A
  hgvsp: ENSP00000403051.2:p.Val1406Met
  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.4216G>A
  hgvsp: ENSP00000326581.7:p.Val1406Met
  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.4216G>A
  hgvsp: ENSP00000469486.1:p.Val1406Met
  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.397+4374G>A
  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.397+4374G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3844G>A
  hgvsp: ENSP00000473190.1:p.Val1282Met
  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.3838G>A
  hgvsp: ENSP00000472402.1:p.Val1280Met
  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.397+4374G>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.397+4374G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1406Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

19-57325595-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325595
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325595
    reference: chr 19
allele count: 1
allele frequency: 8.337502084375522e-6
allele num: 119940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.4215A>C
  hgvsp: ENSP00000472395.1:p.Glu1405Asp
  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.397+4373A>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.397+4373A>C
  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.4215A>C
  hgvsp: ENSP00000326581.7:p.Glu1405Asp
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4373A>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.4215A>C
  hgvsp: ENSP00000469486.1:p.Glu1405Asp
  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.4215A>C
  hgvsp: ENSP00000403051.2:p.Glu1405Asp
  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.3837A>C
  hgvsp: ENSP00000472402.1:p.Glu1279Asp
  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.490+3519A>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.397+4373A>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.397+4373A>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3843A>C
  hgvsp: ENSP00000473190.1:p.Glu1281Asp
  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.397+4373A>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1405Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

19-57325600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325600
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325600
    reference: chr 19
allele count: 4
allele frequency: 3.345992337677547e-5
allele num: 119546
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.4210C>T
  hgvsp: ENSP00000472395.1:p.Pro1404Ser
  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.3832C>T
  hgvsp: ENSP00000472402.1:p.Pro1278Ser
  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.490+3514C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4368C>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.4210C>T
  hgvsp: ENSP00000403051.2:p.Pro1404Ser
  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.397+4368C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3838C>T
  hgvsp: ENSP00000473190.1:p.Pro1280Ser
  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.397+4368C>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.4210C>T
  hgvsp: ENSP00000326581.7:p.Pro1404Ser
  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.4210C>T
  hgvsp: ENSP00000469486.1:p.Pro1404Ser
  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.397+4368C>T
  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.397+4368C>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.397+4368C>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12701
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1404Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

19-57325603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325603
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325603
    reference: chr 19
allele count: 2
allele frequency: 1.680022848310737e-5
allele num: 119046
alternate allele: T
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.397+4365G>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.4207G>A
  hgvsp: ENSP00000472395.1:p.Glu1403Lys
  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.3829G>A
  hgvsp: ENSP00000472402.1:p.Glu1277Lys
  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.397+4365G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3835G>A
  hgvsp: ENSP00000473190.1:p.Glu1279Lys
  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.4207G>A
  hgvsp: ENSP00000326581.7:p.Glu1403Lys
  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.397+4365G>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.4207G>A
  hgvsp: ENSP00000469486.1:p.Glu1403Lys
  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.4207G>A
  hgvsp: ENSP00000403051.2:p.Glu1403Lys
  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.397+4365G>A
  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.397+4365G>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.490+3511G>A
  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.397+4365G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1403Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

19-57325604-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325604
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325604
    reference: chr 19
allele count: 7
allele frequency: 5.876525797948253e-5
allele num: 119118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.397+4364C>T
  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.3834C>T
  hgvsp: ENST00000598410.1:c.3834C>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.4206C>T
  hgvsp: ENST00000326441.9:c.4206C>T(p.%3D)
  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.397+4364C>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.4206C>T
  hgvsp: ENST00000599534.1:c.4206C>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.4206C>T
  hgvsp: ENST00000599577.1:c.4206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3828C>T
  hgvsp: ENST00000593695.1:c.3828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4364C>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.490+3510C>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.397+4364C>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.397+4364C>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.4206C>T
  hgvsp: ENST00000423103.2:c.4206C>T(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.397+4364C>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 26124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Ala1402Ala
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

19-57325604-GGCAGCCTCCACTTCTGGCTCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325604
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325583
    reference: chr 19
allele count: 7
allele frequency: 5.876525797948253e-5
allele num: 119118
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsp: ENSP00000326581.7:p.Glu1412_Pro1418del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Glu1288_Pro1294del
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Glu1286_Pro1292del
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Glu1412_Pro1418del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsp: ENSP00000472395.1:p.Glu1412_Pro1418del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsp: ENSP00000403051.2:p.Glu1412_Pro1418del
  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
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26124
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1412_Pro1418del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: GGCAGCCTCCACTTCTGGCTCA
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

19-57325615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325615
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325615
    reference: chr 19
allele count: 1
allele frequency: 8.356313194618534e-6
allele num: 119670
alternate allele: T
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.397+4353G>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.4195G>A
  hgvsp: ENSP00000403051.2:p.Val1399Met
  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.490+3499G>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.4195G>A
  hgvsp: ENSP00000472395.1:p.Val1399Met
  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.4195G>A
  hgvsp: ENSP00000469486.1:p.Val1399Met
  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.397+4353G>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.397+4353G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3823G>A
  hgvsp: ENSP00000473190.1:p.Val1275Met
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4353G>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.4195G>A
  hgvsp: ENSP00000326581.7:p.Val1399Met
  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.3817G>A
  hgvsp: ENSP00000472402.1:p.Val1273Met
  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.397+4353G>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.397+4353G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1399Met
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-57325623-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325623
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325623
    reference: chr 19
allele count: 1
allele frequency: 8.359246999030327e-6
allele num: 119628
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.4187A>G
  hgvsp: ENSP00000326581.7:p.Glu1396Gly
  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.4187A>G
  hgvsp: ENSP00000469486.1:p.Glu1396Gly
  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.4187A>G
  hgvsp: ENSP00000472395.1:p.Glu1396Gly
  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.397+4345A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3815A>G
  hgvsp: ENSP00000473190.1:p.Glu1272Gly
  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.490+3491A>G
  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.3809A>G
  hgvsp: ENSP00000472402.1:p.Glu1270Gly
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4345A>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.397+4345A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4345A>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.4187A>G
  hgvsp: ENSP00000403051.2:p.Glu1396Gly
  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.397+4345A>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.397+4345A>G
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1396Gly
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-57325625-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325625
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325625
    reference: chr 19
allele count: 19
allele frequency: 1.588150723862383e-4
allele num: 119636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.397+4343T>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.4185T>C
  hgvsp: ENST00000599577.1:c.4185T>C(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.3813T>C
  hgvsp: ENST00000598410.1:c.3813T>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: ENSP00000469185
  ensembl transcript: ENST00000595671
  gene symbol: ZIM2
  hgvsc: ENST00000595671.1:c.490+3489T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4343T>C
  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.3807T>C
  hgvsp: ENST00000593695.1:c.3807T>C(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.4185T>C
  hgvsp: ENST00000599534.1:c.4185T>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.397+4343T>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.4185T>C
  hgvsp: ENST00000326441.9:c.4185T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4343T>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.397+4343T>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.397+4343T>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.4185T>C
  hgvsp: ENST00000423103.2:c.4185T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala1395Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

19-57325636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325636
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325636
    reference: chr 19
allele count: 3
allele frequency: 2.500125006250312e-5
allele num: 119994
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.4174G>A
  hgvsp: ENSP00000472395.1:p.Val1392Ile
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4332G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4332G>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.490+3478G>A
  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.3796G>A
  hgvsp: ENSP00000472402.1:p.Val1266Ile
  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.4174G>A
  hgvsp: ENSP00000326581.7:p.Val1392Ile
  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.397+4332G>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.4174G>A
  hgvsp: ENSP00000403051.2:p.Val1392Ile
  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.4174G>A
  hgvsp: ENSP00000469486.1:p.Val1392Ile
  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.3802G>A
  hgvsp: ENSP00000473190.1:p.Val1268Ile
  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.397+4332G>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.397+4332G>A
  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.397+4332G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1392Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-57325637-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325637
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325637
    reference: chr 19
allele count: 1
allele frequency: 8.331250520703158e-6
allele num: 120030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.4173C>T
  hgvsp: ENST00000599534.1:c.4173C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3795C>T
  hgvsp: ENST00000593695.1:c.3795C>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.4173C>T
  hgvsp: ENST00000423103.2:c.4173C>T(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.3801C>T
  hgvsp: ENST00000598410.1:c.3801C>T(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.397+4331C>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.4173C>T
  hgvsp: ENST00000326441.9:c.4173C>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.4173C>T
  hgvsp: ENST00000599577.1:c.4173C>T(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.397+4331C>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.397+4331C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4331C>T
  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.397+4331C>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.490+3477C>T
  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.397+4331C>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1391Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-57325643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325643
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325643
    reference: chr 19
allele count: 95
allele frequency: 7.909284667643533e-4
allele num: 120112
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.4167C>T
  hgvsp: ENST00000326441.9:c.4167C>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.4167C>T
  hgvsp: ENST00000423103.2:c.4167C>T(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.397+4325C>T
  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.397+4325C>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.397+4325C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4325C>T
  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.3795C>T
  hgvsp: ENST00000598410.1:c.3795C>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.4167C>T
  hgvsp: ENST00000599534.1:c.4167C>T(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.397+4325C>T
  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.3789C>T
  hgvsp: ENST00000593695.1:c.3789C>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.4167C>T
  hgvsp: ENST00000599577.1:c.4167C>T(p.%3D)
  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.397+4325C>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.490+3471C>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26246
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1389Gly
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: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-57325655-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325655
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325655
    reference: chr 19
allele count: 4
allele frequency: 3.326237360298031e-5
allele num: 120256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3777G>T
  hgvsp: ENST00000593695.1:c.3777G>T(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.397+4313G>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4313G>T
  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.397+4313G>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.4155G>T
  hgvsp: ENST00000599534.1:c.4155G>T(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.397+4313G>T
  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.3783G>T
  hgvsp: ENST00000598410.1:c.3783G>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.4155G>T
  hgvsp: ENST00000599577.1:c.4155G>T(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.490+3459G>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.397+4313G>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.4155G>T
  hgvsp: ENST00000326441.9:c.4155G>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.4155G>T
  hgvsp: ENST00000423103.2:c.4155G>T(p.%3D)
  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.397+4313G>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1385Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

19-57325675-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325675
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325675
    reference: chr 19
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
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.4135C>A
  hgvsp: ENSP00000472395.1:p.His1379Asn
  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.3757C>A
  hgvsp: ENSP00000472402.1:p.His1253Asn
  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.397+4293C>A
  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.397+4293C>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.490+3439C>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.397+4293C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3763C>A
  hgvsp: ENSP00000473190.1:p.His1255Asn
  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.397+4293C>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4293C>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.4135C>A
  hgvsp: ENSP00000469486.1:p.His1379Asn
  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.4135C>A
  hgvsp: ENSP00000403051.2:p.His1379Asn
  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.4135C>A
  hgvsp: ENSP00000326581.7:p.His1379Asn
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4293C>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His1379Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD

19-57325687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325687
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325687
    reference: chr 19
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  hgvsc: ENST00000593711.1:c.397+4281G>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.4123G>A
  hgvsp: ENSP00000326581.7:p.Glu1375Lys
  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.4123G>A
  hgvsp: ENSP00000472395.1:p.Glu1375Lys
  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.397+4281G>A
  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.3745G>A
  hgvsp: ENSP00000472402.1:p.Glu1249Lys
  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.490+3427G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3751G>A
  hgvsp: ENSP00000473190.1:p.Glu1251Lys
  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.4123G>A
  hgvsp: ENSP00000469486.1:p.Glu1375Lys
  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.4123G>A
  hgvsp: ENSP00000403051.2:p.Glu1375Lys
  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.397+4281G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4281G>A
  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.397+4281G>A
  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.397+4281G>A
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1375Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

19-57325689-ACTTCCTGGGCTGCTGCTGCTGCAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325689
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325665
    reference: chr 19
allele count: 3
allele frequency: 2.489254717137689e-5
allele num: 120518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Ala1366_Glu1373del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsp: ENSP00000472395.1:p.Ala1366_Glu1373del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Ala1242_Glu1249del
  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
  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
  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
  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
  hgvsp: ENSP00000403051.2:p.Ala1366_Glu1373del
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Ala1240_Glu1247del
  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
  hgvsp: ENSP00000326581.7:p.Ala1366_Glu1373del
  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
  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
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1366_Glu1373del
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: ACTTCCTGGGCTGCTGCTGCTGCAG
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-57325696-G-GGGCTGCTGCTGCTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325696
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325711
    reference: chr 19
allele count: 11
allele frequency: 9.126964371649989e-5
allele num: 120522
alternate allele: GGGCTGCTGCTGCTGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000472306
  ensembl transcript: ENST00000593711
  gene symbol: ZIM2
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsp: ENSP00000326581.7:p.Ala1367_Ala1371dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsp: ENSP00000403051.2:p.Ala1367_Ala1371dup
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Ala1241_Ala1245dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsp: ENSP00000472395.1:p.Ala1367_Ala1371dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Ala1367_Ala1371dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Ala1243_Ala1247dup
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Ala1367_Ala1371dup
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-57325696-GGGCTGCTGCTGCTGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325696
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325681
    reference: chr 19
allele count: 2
allele frequency: 1.659448067572725e-5
allele num: 120522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsp: ENSP00000403051.2:p.Ala1367_Ala1371del
  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
  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
  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
  hgvsp: ENSP00000472395.1:p.Ala1367_Ala1371del
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Ala1241_Ala1245del
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsp: ENSP00000326581.7:p.Ala1367_Ala1371del
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Ala1367_Ala1371del
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Ala1243_Ala1247del
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1367_Ala1371del
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: GGGCTGCTGCTGCTGC
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

19-57325697-G-GGCTGCTGCTGCTGCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325697
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325712
    reference: chr 19
allele count: 9
allele frequency: 7.468879668049793e-5
allele num: 120500
alternate allele: GGCTGCTGCTGCTGCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsp: ENSP00000326581.7:p.Ala1367_Ala1371dup
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Ala1367_Ala1371dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Ala1241_Ala1245dup
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsp: ENSP00000403051.2:p.Ala1367_Ala1371dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Ala1243_Ala1247dup
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsp: ENSP00000472395.1:p.Ala1367_Ala1371dup
  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
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26202
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1367_Ala1371dup
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-57325697-GGCTGCTGCTGCTGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325697
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325682
    reference: chr 19
allele count: 14
allele frequency: 1.161825726141079e-4
allele num: 120500
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000470326
  ensembl transcript: ENST00000601070
  gene symbol: ZIM2
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Ala1241_Ala1245del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Ala1243_Ala1247del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsp: ENSP00000472395.1:p.Ala1367_Ala1371del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsp: ENSP00000403051.2:p.Ala1367_Ala1371del
  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
  hgvsp: ENSP00000326581.7:p.Ala1367_Ala1371del
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Ala1367_Ala1371del
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala1367_Ala1371del
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GGCTGCTGCTGCTGCA
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

19-57325697-G-GGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325697
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325700
    reference: chr 19
allele count: 4
allele frequency: 3.319502074688797e-5
allele num: 120500
alternate allele: GGCT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4268_397+4270dupAGC
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3738_3740dupAGC
  hgvsp: ENSP00000473190.1:p.Ala1247dup
  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.397+4268_397+4270dupAGC
  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.397+4268_397+4270dupAGC
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3732_3734dupAGC
  hgvsp: ENSP00000472402.1:p.Ala1245dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.4110_4112dupAGC
  hgvsp: ENSP00000326581.7:p.Ala1371dup
  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.397+4268_397+4270dupAGC
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.4110_4112dupAGC
  hgvsp: ENSP00000469486.1:p.Ala1371dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.4110_4112dupAGC
  hgvsp: ENSP00000403051.2:p.Ala1371dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.4110_4112dupAGC
  hgvsp: ENSP00000472395.1:p.Ala1371dup
  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.397+4268_397+4270dupAGC
  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.490+3414_490+3416dupAGC
  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.397+4268_397+4270dupAGC
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala1371dup
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

19-57325697-G-GGCTGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325697
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325703
    reference: chr 19
allele count: 1
allele frequency: 8.298755186721992e-6
allele num: 120500
alternate allele: GGCTGCT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  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
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.4107_4112dupAGCAGC
  hgvsp: ENSP00000403051.2:p.Ala1370_Ala1371dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3729_3734dupAGCAGC
  hgvsp: ENSP00000472402.1:p.Ala1244_Ala1245dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.4107_4112dupAGCAGC
  hgvsp: ENSP00000469486.1:p.Ala1370_Ala1371dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3735_3740dupAGCAGC
  hgvsp: ENSP00000473190.1:p.Ala1246_Ala1247dup
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.4107_4112dupAGCAGC
  hgvsp: ENSP00000326581.7:p.Ala1370_Ala1371dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.4107_4112dupAGCAGC
  hgvsp: ENSP00000472395.1:p.Ala1370_Ala1371dup
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1370_Ala1371dup
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

19-57325697-G-GGCTGCTGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325697
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325706
    reference: chr 19
allele count: 1
allele frequency: 8.298755186721992e-6
allele num: 120500
alternate allele: GGCTGCTGCT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsp: ENSP00000472395.1:p.Ala1369_Ala1371dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsp: ENSP00000326581.7:p.Ala1369_Ala1371dup
  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
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsp: ENSP00000403051.2:p.Ala1369_Ala1371dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Ala1243_Ala1245dup
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Ala1245_Ala1247dup
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Ala1369_Ala1371dup
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1369_Ala1371dup
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum

19-57325697-GGCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325697
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325694
    reference: chr 19
allele count: 1
allele frequency: 8.298755186721992e-6
allele num: 120500
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.397+4268_397+4270delAGC
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4268_397+4270delAGC
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsc: ENST00000599577.1:c.4110_4112delAGC
  hgvsp: ENSP00000469486.1:p.Ala1371del
  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.397+4268_397+4270delAGC
  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.397+4268_397+4270delAGC
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.4110_4112delAGC
  hgvsp: ENSP00000326581.7:p.Ala1371del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsc: ENST00000599534.1:c.4110_4112delAGC
  hgvsp: ENSP00000472395.1:p.Ala1371del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3732_3734delAGC
  hgvsp: ENSP00000472402.1:p.Ala1245del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3738_3740delAGC
  hgvsp: ENSP00000473190.1:p.Ala1247del
  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.397+4268_397+4270delAGC
  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.397+4268_397+4270delAGC
  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.4110_4112delAGC
  hgvsp: ENSP00000403051.2:p.Ala1371del
  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.490+3414_490+3416delAGC
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1371del
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: GGCT
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-57325699-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325699
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325699
    reference: chr 19
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4269G>T
  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.3733G>T
  hgvsp: ENSP00000472402.1:p.Ala1245Ser
  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.397+4269G>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.4111G>T
  hgvsp: ENSP00000403051.2:p.Ala1371Ser
  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.490+3415G>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.4111G>T
  hgvsp: ENSP00000326581.7:p.Ala1371Ser
  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.3739G>T
  hgvsp: ENSP00000473190.1:p.Ala1247Ser
  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.397+4269G>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.4111G>T
  hgvsp: ENSP00000472395.1:p.Ala1371Ser
  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.4111G>T
  hgvsp: ENSP00000469486.1:p.Ala1371Ser
  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.397+4269G>T
  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.397+4269G>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.397+4269G>T
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1371Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

19-57325699-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325699
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325699
    reference: chr 19
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4269G>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.4111G>C
  hgvsp: ENSP00000472395.1:p.Ala1371Pro
  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.3739G>C
  hgvsp: ENSP00000473190.1:p.Ala1247Pro
  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.397+4269G>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4269G>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.4111G>C
  hgvsp: ENSP00000469486.1:p.Ala1371Pro
  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.4111G>C
  hgvsp: ENSP00000403051.2:p.Ala1371Pro
  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.490+3415G>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.397+4269G>C
  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.3733G>C
  hgvsp: ENSP00000472402.1:p.Ala1245Pro
  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.397+4269G>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.397+4269G>C
  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.4111G>C
  hgvsp: ENSP00000326581.7:p.Ala1371Pro
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1371Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ

19-57325700-TGCTGCTGCTGCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325700
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325688
    reference: chr 19
allele count: 2
allele frequency: 1.66096402351925e-5
allele num: 120412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsp: ENSP00000326581.7:p.Ala1368_Ala1371del
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Ala1242_Ala1245del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsp: ENSP00000403051.2:p.Ala1368_Ala1371del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Ala1244_Ala1247del
  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
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000469486
  ensembl transcript: ENST00000599577
  gene symbol: PEG3
  hgvsp: ENSP00000469486.1:p.Ala1368_Ala1371del
  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
  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
  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
  hgvsp: ENSP00000472395.1:p.Ala1368_Ala1371del
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1368_Ala1371del
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: TGCTGCTGCTGCA
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

19-57325703-TGCTGCTGCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325703
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325694
    reference: chr 19
allele count: 5
allele frequency: 4.147725387397552e-5
allele num: 120548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsp: ENSP00000473190.1:p.Ala1245_Ala1247del
  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
  hgvsp: ENSP00000469486.1:p.Ala1369_Ala1371del
  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
  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
  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
  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
  hgvsp: ENSP00000403051.2:p.Ala1369_Ala1371del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472395
  ensembl transcript: ENST00000599534
  gene symbol: PEG3
  hgvsp: ENSP00000472395.1:p.Ala1369_Ala1371del
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsp: ENSP00000472402.1:p.Ala1243_Ala1245del
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  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
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsp: ENSP00000326581.7:p.Ala1369_Ala1371del
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1369_Ala1371del
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: TGCTGCTGCA
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-57325704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325704
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325704
    reference: chr 19
allele count: 1
allele frequency: 8.323345318950592e-6
allele num: 120144
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.397+4264C>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.397+4264C>T
  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.397+4264C>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.4106C>T
  hgvsp: ENSP00000326581.7:p.Ala1369Val
  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.3728C>T
  hgvsp: ENSP00000472402.1:p.Ala1243Val
  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.397+4264C>T
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3734C>T
  hgvsp: ENSP00000473190.1:p.Ala1245Val
  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.4106C>T
  hgvsp: ENSP00000469486.1:p.Ala1369Val
  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.397+4264C>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.4106C>T
  hgvsp: ENSP00000472395.1:p.Ala1369Val
  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.397+4264C>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.490+3410C>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.4106C>T
  hgvsp: ENSP00000403051.2:p.Ala1369Val
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1369Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

19-57325705-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325705
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325705
    reference: chr 19
allele count: 26
allele frequency: 2.161910463646644e-4
allele num: 120264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000403051
  ensembl transcript: ENST00000423103
  gene symbol: PEG3
  hgvsc: ENST00000423103.2:c.4105G>A
  hgvsp: ENSP00000403051.2:p.Ala1369Thr
  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.4105G>A
  hgvsp: ENSP00000472395.1:p.Ala1369Thr
  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.4105G>A
  hgvsp: ENSP00000469486.1:p.Ala1369Thr
  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.4105G>A
  hgvsp: ENSP00000326581.7:p.Ala1369Thr
  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.397+4263G>A
  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.397+4263G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4263G>A
  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.397+4263G>A
  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.3727G>A
  hgvsp: ENSP00000472402.1:p.Ala1243Thr
  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.490+3409G>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.397+4263G>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.397+4263G>A
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3733G>A
  hgvsp: ENSP00000473190.1:p.Ala1245Thr
  variant of: http://identifiers.org/hgnc/8826
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Ala1369Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

19-57325709-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325709
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325709
    reference: chr 19
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000473190
  ensembl transcript: ENST00000598410
  gene symbol: PEG3
  hgvsc: ENST00000598410.1:c.3729A>G
  hgvsp: ENST00000598410.1:c.3729A>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.4101A>G
  hgvsp: ENST00000326441.9:c.4101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3723A>G
  hgvsp: ENST00000593695.1:c.3723A>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.4101A>G
  hgvsp: ENST00000599534.1:c.4101A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4259A>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.397+4259A>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.397+4259A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4259A>G
  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.4101A>G
  hgvsp: ENST00000599577.1:c.4101A>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.4101A>G
  hgvsp: ENST00000423103.2:c.4101A>G(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.397+4259A>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.490+3405A>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.397+4259A>G
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1367Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

19-57325712-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325712
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325712
    reference: chr 19
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3720T>C
  hgvsp: ENST00000593695.1:c.3720T>C(p.%3D)
  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.397+4256T>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.4098T>C
  hgvsp: ENST00000599577.1:c.4098T>C(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.4098T>C
  hgvsp: ENST00000599534.1:c.4098T>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.4098T>C
  hgvsp: ENST00000423103.2:c.4098T>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.4098T>C
  hgvsp: ENST00000326441.9:c.4098T>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.397+4256T>C
  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.3726T>C
  hgvsp: ENST00000598410.1:c.3726T>C(p.%3D)
  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.397+4256T>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.490+3402T>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.397+4256T>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.397+4256T>C
  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.397+4256T>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala1366Ala
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: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

19-57325721-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325721
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325721
    reference: chr 19
allele count: 8
allele frequency: 6.611898110650116e-5
allele num: 120994
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000326581
  ensembl transcript: ENST00000326441
  gene symbol: PEG3
  hgvsc: ENST00000326441.9:c.4089A>G
  hgvsp: ENST00000326441.9:c.4089A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3711A>G
  hgvsp: ENST00000593695.1:c.3711A>G(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.397+4247A>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.4089A>G
  hgvsp: ENST00000599534.1:c.4089A>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.3717A>G
  hgvsp: ENST00000598410.1:c.3717A>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.4089A>G
  hgvsp: ENST00000599577.1:c.4089A>G(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.397+4247A>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.4089A>G
  hgvsp: ENST00000423103.2:c.4089A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4247A>G
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4247A>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.397+4247A>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.397+4247A>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.490+3393A>G
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4119
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26045
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1363Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-57325725-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325725
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325725
    reference: chr 19
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
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.397+4243A>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.4085A>C
  hgvsp: ENSP00000472395.1:p.Glu1362Ala
  variant of: http://identifiers.org/hgnc/8826
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000375589
  ensembl transcript: ENST00000391708
  gene symbol: ZIM2
  hgvsc: ENST00000391708.3:c.397+4243A>C
  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.4085A>C
  hgvsp: ENSP00000326581.7:p.Glu1362Ala
  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.397+4243A>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.397+4243A>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4243A>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.4085A>C
  hgvsp: ENSP00000403051.2:p.Glu1362Ala
  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.3707A>C
  hgvsp: ENSP00000472402.1:p.Glu1236Ala
  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.3713A>C
  hgvsp: ENSP00000473190.1:p.Glu1238Ala
  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.4085A>C
  hgvsp: ENSP00000469486.1:p.Glu1362Ala
  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.490+3389A>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.397+4243A>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1362Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

19-57325727-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57325727
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 57325727
    reference: chr 19
allele count: 261
allele frequency: 2.170983680191646e-3
allele num: 120222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000198300
  ensembl protein: ENSP00000472402
  ensembl transcript: ENST00000593695
  gene symbol: PEG3
  hgvsc: ENST00000593695.1:c.3705T>C
  hgvsp: ENST00000593695.1:c.3705T>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.4083T>C
  hgvsp: ENST00000423103.2:c.4083T>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.4083T>C
  hgvsp: ENST00000326441.9:c.4083T>C(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.3711T>C
  hgvsp: ENST00000598410.1:c.3711T>C(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.4083T>C
  hgvsp: ENST00000599577.1:c.4083T>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.397+4241T>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.397+4241T>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.4083T>C
  hgvsp: ENST00000599534.1:c.4083T>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.397+4241T>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.490+3387T>C
  variant of: http://identifiers.org/hgnc/12875
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000269699
  ensembl protein: ENSP00000468984
  ensembl transcript: ENST00000599935
  gene symbol: ZIM2
  hgvsc: ENST00000599935.1:c.397+4241T>C
  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.397+4241T>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.397+4241T>C
  variant of: http://identifiers.org/hgnc/12875
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13134
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24670
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
hgvs: p.Asp1361Asp
num of homozygotes: 1
population: European (Non-Finnish)
reference allele: A

GenotypeDepth
all individuals: 49
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1335
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 845
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33234
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6822
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1317
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3609
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8259
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998500749625187e-5
allele num: 66700
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: 11576
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.522e0

QD
type: SiteQuality
SIO_000300: 1.404e1

DP
type: SiteQuality
SIO_000300: 1.792588e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.423e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.915e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

GenotypeDepth
all individuals: 318
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1332
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7560
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6823
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 33223
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3608
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49802087081684e-5
allele num: 66696
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.245e1

FS
type: SiteQuality
SIO_000300: 1.922e0

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

DP
type: SiteQuality
SIO_000300: 1.79305e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

GenotypeDepth
all individuals: 2853
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 198
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 846
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1548
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 7.5e0
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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East Asian
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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VQSLOD
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InbreedingCoeff
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FS
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DP
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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MQRankSum
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MQ
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DP
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QD
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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MQ
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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South Asian
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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MQ
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DP
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MQRankSum
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ClippingRankSum
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East Asian
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Latino
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African
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FS
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DP
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MQ
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
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
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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FS
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 17

GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 17
allele frequency: 2.555545533808364e-4
allele num: 66522
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10292
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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SIO_000300: 0.0e0

VQSLOD
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QD
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SIO_000300: 1.379e1

DP
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SIO_000300: 1.78587e6

BaseQRankSum
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SIO_000300: -4.992e0

GenotypeDepth
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variant carriers: 1

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

African
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allele count: 2
allele frequency: 1.942501942501943e-4
allele num: 10296
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 3
allele frequency: 4.510057428064584e-5
allele num: 66518
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.054e0

DP
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SIO_000300: 1.78495e6

InbreedingCoeff
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SIO_000300: -8.0e-4

VQSLOD
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QD
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MQ
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SIO_000300: 5.937e1

ReadPosRankSum
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SIO_000300: -4.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
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SIO_000300: 4.71e0

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

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: 66490
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 count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
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

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

DP
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MQ
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele frequency: 0.0e0
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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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European (Non-Finnish)
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allele count: 2
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allele num: 66472
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FS
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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variant carriers: 1

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

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
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allele count: 67
allele frequency: 6.523855890944498e-3
allele num: 10270
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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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66444
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East Asian
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South Asian
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MQRankSum
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QD
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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GenotypeDepth
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variant carriers: 5

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: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.268540202966433e-3
allele num: 10248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 63
allele frequency: 3.815406976744186e-3
allele num: 16512
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 391
allele frequency: 5.889441180900738e-3
allele num: 66390
num of homozygotes: 1

Latino
type: Population
allele count: 27
allele frequency: 2.332008982553118e-3
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.251e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 1.808638e6

VQSLOD
type: SiteQuality
SIO_000300: 6.1e0

QD
type: SiteQuality
SIO_000300: 1.465e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeDepth
all individuals: 115
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26530
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 215
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variant carriers: 0

GenotypeDepth
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 32285
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6800
bin: 9.75e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 1574
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8088
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3586
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variant carriers: 0

GenotypeQuality
all individuals: 3246
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variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.520795660036166e-5
allele num: 66360
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: 6612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.779132e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

GenotypeDepth
all individuals: 1362
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 525
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variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32252
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3579
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 40
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8077
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variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6831
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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: -8.468e-1

QD
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

FS
type: SiteQuality
SIO_000300: 1.142e0

DP
type: SiteQuality
SIO_000300: 1.780965e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

GenotypeDepth
all individuals: 1362
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 203
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1572
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6831
bin: 9.75e1
variant carriers: 55

GenotypeQuality
all individuals: 65
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 35
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 32252
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 807
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variant carriers: 0

GenotypeQuality
all individuals: 3579
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3240
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8077
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.625346901017577e-4
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.934846409704559e-4
allele num: 10222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.814333232537043e-3
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.672474602839659e-4
allele num: 66346
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818181818181818e-4
allele num: 16500
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.780965e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

FS
type: SiteQuality
SIO_000300: 1.142e0

VQSLOD
type: SiteQuality
SIO_000300: -8.468e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

MQ
type: SiteQuality
SIO_000300: 5.885e1

QD
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeDepth
all individuals: 196
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
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variant carriers: 0

GenotypeQuality
all individuals: 3236
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8022
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6795
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 86
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 1571
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GenotypeQuality
all individuals: 853
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variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 31967
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variant carriers: 0

GenotypeQuality
all individuals: 2522
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 3573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

MQRankSum
type: SiteQuality
SIO_000300: -3.795e0

MQ
type: SiteQuality
SIO_000300: 5.536e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

DP
type: SiteQuality
SIO_000300: 1.774389e6

FS
type: SiteQuality
SIO_000300: 5.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.614e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

QD
type: SiteQuality
SIO_000300: 1.27e0

GenotypeDepth
all individuals: 168
bin: 7.75e1
variant carriers: 11

GenotypeDepth
all individuals: 2312
bin: 4.75e1
variant carriers: 133

GenotypeDepth
all individuals: 394
bin: 6.75e1
variant carriers: 34

GenotypeDepth
all individuals: 13134
bin: 2.75e1
variant carriers: 40

GenotypeDepth
all individuals: 212
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 3361
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variant carriers: 0

GenotypeQuality
all individuals: 177
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variant carriers: 0

GenotypeQuality
all individuals: 7599
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variant carriers: 2

GenotypeQuality
all individuals: 322
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7502
bin: 9.75e1
variant carriers: 758

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3030
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variant carriers: 0

GenotypeQuality
all individuals: 376
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variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
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GenotypeQuality
all individuals: 2388
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GenotypeQuality
all individuals: 1243
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GenotypeQuality
all individuals: 360
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GenotypeQuality
all individuals: 30588
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GenotypeQuality
all individuals: 386
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.363193768257059e-3
allele num: 10270
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.493834696618239e-4
allele num: 16382
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.393242772553117e-3
allele num: 11484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 179
allele frequency: 2.717886425751594e-2
allele num: 6586
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 539
allele frequency: 8.161720169594185e-3
allele num: 66040
num of homozygotes: 1

Other
type: Population
allele count: 9
allele frequency: 1.0e-2
allele num: 900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

QD
type: SiteQuality
SIO_000300: 1.651e1

DP
type: SiteQuality
SIO_000300: 1.83477e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

MQ
type: SiteQuality
SIO_000300: 5.905e1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e0

GenotypeDepth
all individuals: 320
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
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variant carriers: 1

GenotypeDepth
all individuals: 2005
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variant carriers: 0

GenotypeDepth
all individuals: 115
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GenotypeDepth
all individuals: 142
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GenotypeQuality
all individuals: 44
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 8022
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 2523
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GenotypeQuality
all individuals: 873
bin: 2.25e1
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GenotypeQuality
all individuals: 94
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GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 32050
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GenotypeQuality
all individuals: 126
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variant carriers: 0

GenotypeQuality
all individuals: 108
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GenotypeQuality
all individuals: 1570
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 3577
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GenotypeQuality
all individuals: 74
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GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
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: 11576
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 1.834e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.773527e6

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

GenotypeDepth
all individuals: 216
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variant carriers: 1

GenotypeDepth
all individuals: 850
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variant carriers: 0

GenotypeDepth
all individuals: 203
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GenotypeDepth
all individuals: 142
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GenotypeDepth
all individuals: 327
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variant carriers: 0

GenotypeQuality
all individuals: 68
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GenotypeQuality
all individuals: 3568
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 112
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GenotypeQuality
all individuals: 2518
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GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.544490562607932e-5
allele num: 66014
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: 10044
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.172e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 2.469e0

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

DP
type: SiteQuality
SIO_000300: 1.774057e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3234
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GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65950
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.335e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.919e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

DP
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SIO_000300: 1.773288e6

MQRankSum
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SIO_000300: -4.713e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.105e1

MQ
type: SiteQuality
SIO_000300: 5.608e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e-1

GenotypeDepth
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variant carriers: 19

GenotypeDepth
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 146
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GenotypeQuality
all individuals: 3222
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variant carriers: 0

South Asian
type: Population
allele count: 112
allele frequency: 6.790348005335274e-3
allele num: 16494
num of homozygotes: 1

Latino
type: Population
allele count: 5
allele frequency: 4.320774282751469e-4
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.014028056112224e-4
allele num: 9980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.883768934219713e-4
allele num: 65886
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314279102059708e-4
allele num: 8642
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

DP
type: SiteQuality
SIO_000300: 1.774746e6

BaseQRankSum
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SIO_000300: -6.59e-1

MQ
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SIO_000300: 5.893e1

FS
type: SiteQuality
SIO_000300: 1.095e0

VQSLOD
type: SiteQuality
SIO_000300: -7.311e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

QD
type: SiteQuality
SIO_000300: 1.86e0

GenotypeDepth
all individuals: 534
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variant carriers: 0

GenotypeDepth
all individuals: 74
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variant carriers: 0

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 84
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1561
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GenotypeQuality
all individuals: 6904
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variant carriers: 15

GenotypeQuality
all individuals: 146
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variant carriers: 1

GenotypeQuality
all individuals: 31788
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GenotypeQuality
all individuals: 1314
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.973105060255593e-4
allele num: 65886
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

FS
type: SiteQuality
SIO_000300: 1.095e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.893e1

DP
type: SiteQuality
SIO_000300: 1.774746e6

QD
type: SiteQuality
SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: -7.311e-1

GenotypeDepth
all individuals: 50
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variant carriers: 0

GenotypeDepth
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variant carriers: 5

GenotypeQuality
all individuals: 2506
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6904
bin: 9.75e1
variant carriers: 9

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.36599581094618e-4
allele num: 65886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

QD
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MQ
type: SiteQuality
SIO_000300: 5.893e1

InbreedingCoeff
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SIO_000300: 7.8e-3

ReadPosRankSum
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SIO_000300: 9.409999999999999e-1

MQRankSum
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SIO_000300: -2.81e-1

DP
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SIO_000300: 1.774746e6

FS
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SIO_000300: 1.095e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.311e-1

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65932
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10002
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.33e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.71e-1

MQ
type: SiteQuality
SIO_000300: 5.562e1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.3e-3

DP
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SIO_000300: 1.773266e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.317e0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2510
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: 7
allele frequency: 6.045949214026602e-4
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
type: SiteQuality
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: -4.632e0

DP
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SIO_000300: 1.773557e6

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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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South Asian
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Other
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South Asian
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Latino
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European (Non-Finnish)
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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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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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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East Asian
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Latino
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BaseQRankSum
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QD
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
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FS
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DP
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MQRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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Latino
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South Asian
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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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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African
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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QD
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MQRankSum
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FS
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DP
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ClippingRankSum
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 3.06597988717194e-5
allele num: 65232
num of homozygotes: 0

African
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allele num: 9736
num of homozygotes: 0

Latino
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allele frequency: 1.730702665282105e-4
allele num: 11556
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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

Other
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South Asian
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East Asian
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allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.054231717337716e-4
allele num: 9736
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.59896983075791e-5
allele num: 65232
num of homozygotes: 0

Latino
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9898
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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East Asian
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South Asian
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Other
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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DP
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MQ
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

Latino
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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: 16510
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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Other
type: Population
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: 1.526484506182262e-5
allele num: 65510
num of homozygotes: 0

MQ
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FS
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SIO_000300: 7.22e0

QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 11
allele frequency: 1.112234580384226e-3
allele num: 9890
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 3.457814661134163e-4
allele num: 11568
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European (Non-Finnish)
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allele num: 65542
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East Asian
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South Asian
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Other
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MQ
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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FS
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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African
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Latino
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DP
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MQ
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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South Asian
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Other
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European (Finnish)
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Latino
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QD
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DP
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 4

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65828
num of homozygotes: 0

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

Other
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allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 8.574277168494517e-3
allele num: 10030
num of homozygotes: 0

Latino
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allele frequency: 6.91323885240235e-4
allele num: 11572
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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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 count: 0
allele frequency: 0.0e0
allele num: 65918
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 4.622140050843541e-4
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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DP
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QD
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele frequency: 0.0e0
allele num: 66096
num of homozygotes: 0

South Asian
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African
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Other
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele num: 6612
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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DP
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 16508
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: 3
allele frequency: 4.536793394428818e-5
allele num: 66126
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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Other
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East Asian
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MQ
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VQSLOD
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BaseQRankSum
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QD
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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variant carriers: 1

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

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

Latino
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Other
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East Asian
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South Asian
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African
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European (Finnish)
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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QD
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 2
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allele num: 66142
num of homozygotes: 0

South Asian
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European (Finnish)
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Other
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Latino
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East Asian
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African
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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QD
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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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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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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FS
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MQ
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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DP
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VQSLOD
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16512
num of homozygotes: 0

East Asian
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Other
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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South Asian
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MQ
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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ReadPosRankSum
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MQRankSum
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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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InbreedingCoeff
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Finnish)
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East Asian
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South Asian
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BaseQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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African
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European (Non-Finnish)
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Other
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East Asian
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European (Finnish)
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VQSLOD
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MQ
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DP
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QD
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FS
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Finnish)
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Latino
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 1.423e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.091e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 187
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variant carriers: 0

GenotypeDepth
all individuals: 1995
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variant carriers: 0

GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7860
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 3558
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

DP
type: SiteQuality
SIO_000300: 1.770428e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
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SIO_000300: -2.091e0

VQSLOD
type: SiteQuality
SIO_000300: -1.901e0

QD
type: SiteQuality
SIO_000300: 1.635e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.423e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 40
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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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: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2531
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-5
allele num: 66060
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

MQ
type: SiteQuality
SIO_000300: 5.434e1

MQRankSum
type: SiteQuality
SIO_000300: -3.267e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.87e-1

DP
type: SiteQuality
SIO_000300: 1.770389e6

FS
type: SiteQuality
SIO_000300: 3.323e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

QD
type: SiteQuality
SIO_000300: 3.44e0

GenotypeDepth
all individuals: 101
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 311
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.783021050196623e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66146
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.87e-1

DP
type: SiteQuality
SIO_000300: 1.770138e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.345e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

QD
type: SiteQuality
SIO_000300: 3.63e0

MQ
type: SiteQuality
SIO_000300: 5.602e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 440
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GenotypeQuality
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GenotypeQuality
all individuals: 7653
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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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GenotypeQuality
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GenotypeQuality
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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
all individuals: 6827
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
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SIO_000300: -5.362e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 5.135e0

VQSLOD
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

DP
type: SiteQuality
SIO_000300: 1.774454e6

GenotypeDepth
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bin: 1.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 2

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: 26

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 15
allele frequency: 1.297129021099965e-3
allele num: 11564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.667576253714147e-4
allele num: 65964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.774215e6

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

BaseQRankSum
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SIO_000300: -3.374e0

FS
type: SiteQuality
SIO_000300: 1.092e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66142
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.328e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.773329e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.373e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeDepth
all individuals: 101
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.767532721234616e-5
allele num: 10238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.331e0

FS
type: SiteQuality
SIO_000300: 3.184e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.468e1

DP
type: SiteQuality
SIO_000300: 1.775803e6

GenotypeDepth
all individuals: 188
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 101
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13333
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 301
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1585
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32100
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7968
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6843
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.754943776657619e-4
allele num: 10316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.780721e6

MQ
type: SiteQuality
SIO_000300: 5.935e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

FS
type: SiteQuality
SIO_000300: 2.459e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.219e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

GenotypeDepth
all individuals: 2041
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 845
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13410
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3175
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7979
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32174
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 188
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1310
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3540
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6830
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504619180885318e-5
allele num: 66462
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.783033e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

FS
type: SiteQuality
SIO_000300: 4.662e0

MQRankSum
type: SiteQuality
SIO_000300: -1.047e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.129e0

QD
type: SiteQuality
SIO_000300: 1.905e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.17e0

GenotypeDepth
all individuals: 212
bin: 9.75e1
variant carriers: 11

GenotypeDepth
all individuals: 153
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7428
bin: 3.25e1
variant carriers: 13

GenotypeDepth
all individuals: 168
bin: 7.75e1
variant carriers: 17

GenotypeDepth
all individuals: 3246
bin: 4.25e1
variant carriers: 12

GenotypeQuality
all individuals: 322
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30588
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3361
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7502
bin: 9.75e1
variant carriers: 260

GenotypeQuality
all individuals: 7599
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3030
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 165
allele frequency: 2.498485766202302e-3
allele num: 66040
num of homozygotes: 0