18-44470734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470734
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470734
    reference: chr 18
allele count: 4
allele frequency: 3.297989875171083e-5
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.386C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.437C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.393C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.308C>T
  hgvsp: ENSP00000317163.6:p.Ser103Leu
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.281C>T
  hgvsp: ENSP00000465312.1:p.Ser94Leu
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.308C>T
  hgvsp: ENSP00000381648.3:p.Ser103Leu
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.308C>T
  hgvsp: ENSP00000465676.1:p.Ser103Leu
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-371-26523C>T
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser103Leu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

18-44470735-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470735
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470735
    reference: chr 18
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.307T>A
  hgvsp: ENSP00000317163.6:p.Ser103Thr
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.385T>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.392T>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.280T>A
  hgvsp: ENSP00000465312.1:p.Ser94Thr
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.307T>A
  hgvsp: ENSP00000381648.3:p.Ser103Thr
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-371-26524T>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.436T>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.307T>A
  hgvsp: ENSP00000465676.1:p.Ser103Thr
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser103Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

18-44470737-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470737
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470737
    reference: chr 18
allele count: 9
allele frequency: 7.420599584446424e-5
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.383A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.305A>G
  hgvsp: ENSP00000381648.3:p.His102Arg
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.278A>G
  hgvsp: ENSP00000465312.1:p.His93Arg
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-371-26526A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.305A>G
  hgvsp: ENSP00000317163.6:p.His102Arg
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.305A>G
  hgvsp: ENSP00000465676.1:p.His102Arg
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.390A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.434A>G
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 9.75e1
  variant carriers: 9
hgvs: p.His102Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

18-44470737-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470737
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470737
    reference: chr 18
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.434A>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.305A>C
  hgvsp: ENSP00000465676.1:p.His102Pro
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.305A>C
  hgvsp: ENSP00000317163.6:p.His102Pro
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.305A>C
  hgvsp: ENSP00000381648.3:p.His102Pro
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.390A>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.278A>C
  hgvsp: ENSP00000465312.1:p.His93Pro
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-371-26526A>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.383A>C
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His102Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

18-44470748-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470748
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470748
    reference: chr 18
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.423G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.372G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.294G>A
  hgvsp: ENST00000398654.3:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.379G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.267G>A
  hgvsp: ENST00000589917.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.294G>A
  hgvsp: ENST00000585916.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26537G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.294G>A
  hgvsp: ENST00000324794.7:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val98Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

18-44470750-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470750
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470750
    reference: chr 18
allele count: 2
allele frequency: 1.648723063986942e-5
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.377G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.421G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.292G>A
  hgvsp: ENSP00000465676.1:p.Val98Met
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.292G>A
  hgvsp: ENSP00000381648.3:p.Val98Met
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.292G>A
  hgvsp: ENSP00000317163.6:p.Val98Met
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.370G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26535G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.265G>A
  hgvsp: ENSP00000465312.1:p.Val89Met
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 42055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5137
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val98Met
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

18-44470751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470751
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470751
    reference: chr 18
allele count: 4
allele frequency: 3.297446127973885e-5
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.291C>T
  hgvsp: ENST00000398654.3:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.420C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.369C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.264C>T
  hgvsp: ENST00000589917.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.291C>T
  hgvsp: ENST00000324794.7:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26534C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.376C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.291C>T
  hgvsp: ENST00000585916.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala97Ala
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/18-44470756-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470756
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470756
    reference: chr 18
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.259T>G
  hgvsp: ENSP00000465312.1:p.Leu87Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.415T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26529T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.286T>G
  hgvsp: ENSP00000381648.3:p.Leu96Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.286T>G
  hgvsp: ENSP00000317163.6:p.Leu96Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.371T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.364T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.286T>G
  hgvsp: ENSP00000465676.1:p.Leu96Val
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu96Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

18-44470764-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470764
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470764
    reference: chr 18
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.278A>G
  hgvsp: ENSP00000317163.6:p.Glu93Gly
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.251A>G
  hgvsp: ENSP00000465312.1:p.Glu84Gly
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.363A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.278A>G
  hgvsp: ENSP00000381648.3:p.Glu93Gly
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.407A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.278A>G
  hgvsp: ENSP00000465676.1:p.Glu93Gly
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26521A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.356A>G
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu93Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-44470765-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470765
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470765
    reference: chr 18
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.277G>C
  hgvsp: ENSP00000317163.6:p.Glu93Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.277G>C
  hgvsp: ENSP00000381648.3:p.Glu93Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.406G>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.355G>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.250G>C
  hgvsp: ENSP00000465312.1:p.Glu84Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.362G>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.277G>C
  hgvsp: ENSP00000465676.1:p.Glu93Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26520G>C
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu93Gln
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

18-44470772-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470772
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470772
    reference: chr 18
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.270A>G
  hgvsp: ENST00000398654.3:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.264A>G
  hgvsp: ENST00000586953.1:c.264A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.399A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.270A>G
  hgvsp: ENST00000324794.7:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.270A>G
  hgvsp: ENST00000585916.1:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.243A>G
  hgvsp: ENST00000589917.1:c.243A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26513A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.355A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.348A>G
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser90Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

18-44470773-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470773
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470773
    reference: chr 18
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.347C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.354C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.269C>T
  hgvsp: ENSP00000465676.1:p.Ser90Leu
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.242C>T
  hgvsp: ENSP00000465312.1:p.Ser81Leu
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26512C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.398C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.263C>T
  hgvsp: ENSP00000468166.1:p.Ser88Leu
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.269C>T
  hgvsp: ENSP00000381648.3:p.Ser90Leu
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.269C>T
  hgvsp: ENSP00000317163.6:p.Ser90Leu
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser90Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

18-44470777-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470777
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470777
    reference: chr 18
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.265T>C
  hgvsp: ENSP00000317163.6:p.Ser89Pro
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.350T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.238T>C
  hgvsp: ENSP00000465312.1:p.Ser80Pro
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.394T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.265T>C
  hgvsp: ENSP00000381648.3:p.Ser89Pro
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.343T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.259T>C
  hgvsp: ENSP00000468166.1:p.Ser87Pro
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.265T>C
  hgvsp: ENSP00000465676.1:p.Ser89Pro
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26508T>C
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser89Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

18-44470789-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470789
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470789
    reference: chr 18
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26496T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.338T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.253T>C
  hgvsp: ENST00000324794.7:c.253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.253T>C
  hgvsp: ENST00000398654.3:c.253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.331T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.253T>C
  hgvsp: ENST00000585916.1:c.253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.226T>C
  hgvsp: ENST00000589917.1:c.226T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.247T>C
  hgvsp: ENST00000586953.1:c.247T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.382T>C
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu85Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

18-44470791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470791
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470791
    reference: chr 18
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.245G>A
  hgvsp: ENSP00000468166.1:p.Ser82Asn
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.380G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.251G>A
  hgvsp: ENSP00000381648.3:p.Ser84Asn
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.329G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.251G>A
  hgvsp: ENSP00000317163.6:p.Ser84Asn
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26494G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.224G>A
  hgvsp: ENSP00000465312.1:p.Ser75Asn
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.251G>A
  hgvsp: ENSP00000465676.1:p.Ser84Asn
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.336G>A
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser84Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

18-44470799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470799
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470799
    reference: chr 18
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.372G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.216G>A
  hgvsp: ENST00000589917.1:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.243G>A
  hgvsp: ENST00000398654.3:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.243G>A
  hgvsp: ENST00000585916.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.243G>A
  hgvsp: ENST00000324794.7:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.237G>A
  hgvsp: ENST00000586953.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26486G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.321G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.328G>A
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser81Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

18-44470800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470800
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470800
    reference: chr 18
allele count: 3
allele frequency: 2.472065658063878e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.242C>T
  hgvsp: ENSP00000381648.3:p.Ser81Leu
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.371C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.215C>T
  hgvsp: ENSP00000465312.1:p.Ser72Leu
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.236C>T
  hgvsp: ENSP00000468166.1:p.Ser79Leu
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.242C>T
  hgvsp: ENSP00000317163.6:p.Ser81Leu
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.327C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.320C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.242C>T
  hgvsp: ENSP00000465676.1:p.Ser81Leu
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26485C>T
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser81Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

18-44470802-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470802
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470802
    reference: chr 18
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.369A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.318A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.240A>G
  hgvsp: ENST00000585916.1:c.240A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.213A>G
  hgvsp: ENST00000589917.1:c.213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.240A>G
  hgvsp: ENST00000324794.7:c.240A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.240A>G
  hgvsp: ENST00000398654.3:c.240A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.234A>G
  hgvsp: ENST00000586953.1:c.234A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.325A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26483A>G
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser80Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

18-44470806-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470806
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470806
    reference: chr 18
allele count: 3
allele frequency: 2.472106399459433e-5
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.209A>G
  hgvsp: ENSP00000465312.1:p.Lys70Arg
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26479A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.321A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.236A>G
  hgvsp: ENSP00000381648.3:p.Lys79Arg
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.230A>G
  hgvsp: ENSP00000468166.1:p.Lys77Arg
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.236A>G
  hgvsp: ENSP00000465676.1:p.Lys79Arg
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.365A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.236A>G
  hgvsp: ENSP00000317163.6:p.Lys79Arg
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.314A>G
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys79Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

18-44470808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470808
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470808
    reference: chr 18
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.234C>T
  hgvsp: ENST00000585916.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26477C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.228C>T
  hgvsp: ENST00000586953.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.234C>T
  hgvsp: ENST00000324794.7:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.363C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.234C>T
  hgvsp: ENST00000398654.3:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.312C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.319C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.207C>T
  hgvsp: ENST00000589917.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile78Ile
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

18-44470810-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470810
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470810
    reference: chr 18
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.232A>G
  hgvsp: ENSP00000381648.3:p.Ile78Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.317A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26475A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.232A>G
  hgvsp: ENSP00000465676.1:p.Ile78Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.310A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.205A>G
  hgvsp: ENSP00000465312.1:p.Ile69Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.226A>G
  hgvsp: ENSP00000468166.1:p.Ile76Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.361A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.232A>G
  hgvsp: ENSP00000317163.6:p.Ile78Val
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile78Val
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

18-44470811-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470811
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470811
    reference: chr 18
allele count: 4
allele frequency: 3.296250515039143e-5
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.225A>G
  hgvsp: ENST00000586953.1:c.225A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.231A>G
  hgvsp: ENST00000398654.3:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.360A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.316A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.231A>G
  hgvsp: ENST00000585916.1:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.204A>G
  hgvsp: ENST00000589917.1:c.204A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26474A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.231A>G
  hgvsp: ENST00000324794.7:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.309A>G
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr77Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

18-44470842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470842
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470842
    reference: chr 18
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.173G>A
  hgvsp: ENSP00000465312.1:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.200G>A
  hgvsp: ENSP00000465676.1:p.Arg67Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.278G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.285G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.329G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.194G>A
  hgvsp: ENSP00000468166.1:p.Arg65Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.200G>A
  hgvsp: ENSP00000381648.3:p.Arg67Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.200G>A
  hgvsp: ENSP00000317163.6:p.Arg67Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26443G>A
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51054
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg67Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

18-44470851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470851
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470851
    reference: chr 18
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.191G>A
  hgvsp: ENSP00000465676.1:p.Arg64Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.191G>A
  hgvsp: ENSP00000317163.6:p.Arg64Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.191G>A
  hgvsp: ENSP00000381648.3:p.Arg64Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26434G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.320G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.269G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.185G>A
  hgvsp: ENSP00000468166.1:p.Arg62Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.276G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.164G>A
  hgvsp: ENSP00000465312.1:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13274
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg64Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

18-44470854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470854
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470854
    reference: chr 18
allele count: 92
allele frequency: 7.587378560707275e-4
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26431G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.182G>A
  hgvsp: ENSP00000468166.1:p.Arg61His
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.161G>A
  hgvsp: ENSP00000465312.1:p.Arg54His
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.317G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.266G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.188G>A
  hgvsp: ENSP00000465676.1:p.Arg63His
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.273G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.188G>A
  hgvsp: ENSP00000381648.3:p.Arg63His
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.188G>A
  hgvsp: ENSP00000317163.6:p.Arg63His
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg63His
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-44470855-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470855
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470855
    reference: chr 18
allele count: 2
allele frequency: 1.649457328538911e-5
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.160C>T
  hgvsp: ENSP00000465312.1:p.Arg54Cys
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.187C>T
  hgvsp: ENSP00000465676.1:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.187C>T
  hgvsp: ENSP00000381648.3:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.316C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.272C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.265C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.181C>T
  hgvsp: ENSP00000468166.1:p.Arg61Cys
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.187C>T
  hgvsp: ENSP00000317163.6:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26430C>T
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg63Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

18-44470869-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470869
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470869
    reference: chr 18
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.167G>A
  hgvsp: ENSP00000468166.1:p.Arg56Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.275G>A
  hgvsp: ENSP00000468017.1:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.257G>A
  hgvsp: ENSP00000466596.1:p.Arg86Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.146G>A
  hgvsp: ENSP00000465312.1:p.Arg49Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.173G>A
  hgvsp: ENSP00000317163.6:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26416G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.173G>A
  hgvsp: ENSP00000465676.1:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.258G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.251G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.173G>A
  hgvsp: ENSP00000381648.3:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.302G>A
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg58Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

18-44470871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470871
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470871
    reference: chr 18
allele count: 53
allele frequency: 4.374092169549716e-4
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.256C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.300C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26414C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.255C>T
  hgvsp: ENST00000592221.1:c.255C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.171C>T
  hgvsp: ENST00000585916.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.165C>T
  hgvsp: ENST00000586953.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.273C>T
  hgvsp: ENST00000587810.1:c.273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.171C>T
  hgvsp: ENST00000398654.3:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.144C>T
  hgvsp: ENST00000589917.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.249C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.171C>T
  hgvsp: ENST00000324794.7:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile57Ile
num of homozygotes: 1
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

18-44470886-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470886
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470886
    reference: chr 18
allele count: 31
allele frequency: 2.562534098235985e-4
allele num: 120974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.234G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.258G>A
  hgvsp: ENST00000587810.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26399G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.156G>A
  hgvsp: ENST00000324794.7:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.129G>A
  hgvsp: ENST00000589917.1:c.129G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.156G>A
  hgvsp: ENST00000585916.1:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.285G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.241G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.240G>A
  hgvsp: ENST00000592221.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.156G>A
  hgvsp: ENST00000398654.3:c.156G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.150G>A
  hgvsp: ENST00000586953.1:c.150G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala52Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

18-44470887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470887
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470887
    reference: chr 18
allele count: 3
allele frequency: 2.480404802063697e-5
allele num: 120948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.257C>T
  hgvsp: ENSP00000468017.1:p.Ala86Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26398C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.284C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.155C>T
  hgvsp: ENSP00000381648.3:p.Ala52Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.239C>T
  hgvsp: ENSP00000466596.1:p.Ala80Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.240C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.155C>T
  hgvsp: ENSP00000465676.1:p.Ala52Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.128C>T
  hgvsp: ENSP00000465312.1:p.Ala43Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.149C>T
  hgvsp: ENSP00000468166.1:p.Ala50Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.233C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.155C>T
  hgvsp: ENSP00000317163.6:p.Ala52Val
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala52Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

18-44470889-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470889
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470889
    reference: chr 18
allele count: 2
allele frequency: 1.653439153439154e-5
allele num: 120960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.126T>C
  hgvsp: ENST00000589917.1:c.126T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.147T>C
  hgvsp: ENST00000586953.1:c.147T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26396T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.237T>C
  hgvsp: ENST00000592221.1:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.255T>C
  hgvsp: ENST00000587810.1:c.255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.153T>C
  hgvsp: ENST00000398654.3:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.153T>C
  hgvsp: ENST00000585916.1:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.238T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.231T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.153T>C
  hgvsp: ENST00000324794.7:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.282T>C
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Pro51Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

18-44470895-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470895
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470895
    reference: chr 18
allele count: 1
allele frequency: 8.277734549608463e-6
allele num: 120806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.232C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.147C>T
  hgvsp: ENST00000585916.1:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.147C>T
  hgvsp: ENST00000398654.3:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26390C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.276C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.141C>T
  hgvsp: ENST00000586953.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.231C>T
  hgvsp: ENST00000592221.1:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.147C>T
  hgvsp: ENST00000324794.7:c.147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.225C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.120C>T
  hgvsp: ENST00000589917.1:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.249C>T
  hgvsp: ENST00000587810.1:c.249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys49Cys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/18-44470900-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470900
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470900
    reference: chr 18
allele count: 1
allele frequency: 8.277734549608463e-6
allele num: 120806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.227G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.226G>T
  hgvsp: ENSP00000466596.1:p.Gly76Cys
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26385G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.271G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.142G>T
  hgvsp: ENSP00000465676.1:p.Gly48Cys
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.142G>T
  hgvsp: ENSP00000317163.6:p.Gly48Cys
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.136G>T
  hgvsp: ENSP00000468166.1:p.Gly46Cys
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.115G>T
  hgvsp: ENSP00000465312.1:p.Gly39Cys
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.220G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.244G>T
  hgvsp: ENSP00000468017.1:p.Gly82Cys
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.142G>T
  hgvsp: ENSP00000381648.3:p.Gly48Cys
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly48Cys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

18-44470904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470904
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470904
    reference: chr 18
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.240G>A
  hgvsp: ENST00000587810.1:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.138G>A
  hgvsp: ENST00000324794.7:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.222G>A
  hgvsp: ENST00000592221.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.267G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.132G>A
  hgvsp: ENST00000586953.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.138G>A
  hgvsp: ENST00000585916.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.138G>A
  hgvsp: ENST00000398654.3:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26381G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.216G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.111G>A
  hgvsp: ENST00000589917.1:c.111G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.223G>A
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys46Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

18-44470920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470920
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470920
    reference: chr 18
allele count: 5
allele frequency: 4.150893272232185e-5
allele num: 120456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26365C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.116C>T
  hgvsp: ENSP00000468166.1:p.Ala39Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.122C>T
  hgvsp: ENSP00000465676.1:p.Ala41Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.207C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.95C>T
  hgvsp: ENSP00000465312.1:p.Ala32Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.224C>T
  hgvsp: ENSP00000468017.1:p.Ala75Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.122C>T
  hgvsp: ENSP00000317163.6:p.Ala41Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.206C>T
  hgvsp: ENSP00000466596.1:p.Ala69Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.251C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.122C>T
  hgvsp: ENSP00000381648.3:p.Ala41Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.200C>T
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala41Val
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: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

18-44470922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470922
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470922
    reference: chr 18
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.198G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.93G>A
  hgvsp: ENST00000589917.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26363G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.204G>A
  hgvsp: ENST00000592221.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.120G>A
  hgvsp: ENST00000585916.1:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.222G>A
  hgvsp: ENST00000587810.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.114G>A
  hgvsp: ENST00000586953.1:c.114G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.120G>A
  hgvsp: ENST00000398654.3:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.249G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.120G>A
  hgvsp: ENST00000324794.7:c.120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.205G>A
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg40Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

18-44470958-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470958
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470958
    reference: chr 18
allele count: 2
allele frequency: 1.671625823275718e-5
allele num: 119644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26327G>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.186G>C
  hgvsp: ENST00000587810.1:c.186G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.84G>C
  hgvsp: ENST00000585916.1:c.84G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.162G>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.168G>C
  hgvsp: ENST00000592221.1:c.168G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.84G>C
  hgvsp: ENST00000398654.3:c.84G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.57G>C
  hgvsp: ENST00000589917.1:c.57G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.78G>C
  hgvsp: ENST00000586953.1:c.78G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.84G>C
  hgvsp: ENST00000324794.7:c.84G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.169G>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.213G>C
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg28Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

18-44470960-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470960
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470960
    reference: chr 18
allele count: 1
allele frequency: 8.362602441879913e-6
allele num: 119580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.211C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.166C>T
  hgvsp: ENSP00000466596.1:p.Arg56Trp
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.55C>T
  hgvsp: ENSP00000465312.1:p.Arg19Trp
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26325C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.76C>T
  hgvsp: ENSP00000468166.1:p.Arg26Trp
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.160C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.184C>T
  hgvsp: ENSP00000468017.1:p.Arg62Trp
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.82C>T
  hgvsp: ENSP00000381648.3:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.82C>T
  hgvsp: ENSP00000317163.6:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.82C>T
  hgvsp: ENSP00000465676.1:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.167C>T
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg28Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

18-44470961-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470961
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470961
    reference: chr 18
allele count: 1
allele frequency: 8.362462577979963e-6
allele num: 119582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.75A>G
  hgvsp: ENST00000586953.1:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.81A>G
  hgvsp: ENST00000324794.7:c.81A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.54A>G
  hgvsp: ENST00000589917.1:c.54A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.81A>G
  hgvsp: ENST00000398654.3:c.81A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.183A>G
  hgvsp: ENST00000587810.1:c.183A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26324A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.165A>G
  hgvsp: ENST00000592221.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.210A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.81A>G
  hgvsp: ENST00000585916.1:c.81A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.159A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.166A>G
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40892
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly27Gly
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

18-44470975-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470975
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470975
    reference: chr 18
allele count: 1
allele frequency: 8.39545973537511e-6
allele num: 119112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.67C>G
  hgvsp: ENSP00000317163.6:p.Leu23Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.145C>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26310C>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.169C>G
  hgvsp: ENSP00000468017.1:p.Leu57Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.151C>G
  hgvsp: ENSP00000466596.1:p.Leu51Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.152C>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.40C>G
  hgvsp: ENSP00000465312.1:p.Leu14Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.196C>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.67C>G
  hgvsp: ENSP00000465676.1:p.Leu23Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.61C>G
  hgvsp: ENSP00000468166.1:p.Leu21Val
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.67C>G
  hgvsp: ENSP00000381648.3:p.Leu23Val
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Leu23Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

18-44470979-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470979
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470979
    reference: chr 18
allele count: 2
allele frequency: 1.68044632654433e-5
allele num: 119016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.148A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.63A>G
  hgvsp: ENST00000324794.7:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.63A>G
  hgvsp: ENST00000398654.3:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.192A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.147A>G
  hgvsp: ENST00000592221.1:c.147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.36A>G
  hgvsp: ENST00000589917.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.63A>G
  hgvsp: ENST00000585916.1:c.63A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.57A>G
  hgvsp: ENST00000586953.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.165A>G
  hgvsp: ENST00000587810.1:c.165A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26306A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.141A>G
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val21Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

18-44470982-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470982
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470982
    reference: chr 18
allele count: 1
allele frequency: 8.408307407718826e-6
allele num: 118930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.33A>G
  hgvsp: ENST00000589917.1:c.33A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.60A>G
  hgvsp: ENST00000585916.1:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.144A>G
  hgvsp: ENST00000592221.1:c.144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.54A>G
  hgvsp: ENST00000586953.1:c.54A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.145A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.60A>G
  hgvsp: ENST00000324794.7:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.60A>G
  hgvsp: ENST00000398654.3:c.60A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.138A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26303A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.189A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.162A>G
  hgvsp: ENST00000587810.1:c.162A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln20Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

18-44470985-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470985
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470985
    reference: chr 18
allele count: 1
allele frequency: 8.415949908266146e-6
allele num: 118822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.186A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.142A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.135A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.57A>G
  hgvsp: ENST00000585916.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.30A>G
  hgvsp: ENST00000589917.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.159A>G
  hgvsp: ENST00000587810.1:c.159A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.57A>G
  hgvsp: ENST00000398654.3:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.51A>G
  hgvsp: ENST00000586953.1:c.51A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26300A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.141A>G
  hgvsp: ENST00000592221.1:c.141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.57A>G
  hgvsp: ENST00000324794.7:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu19Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

18-44470988-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44470988
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44470988
    reference: chr 18
allele count: 44
allele frequency: 3.707823507601038e-4
allele num: 118668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.48A>G
  hgvsp: ENST00000586953.1:c.48A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.139A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.156A>G
  hgvsp: ENST00000587810.1:c.156A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.54A>G
  hgvsp: ENST00000585916.1:c.54A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.132A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.183A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26297A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.54A>G
  hgvsp: ENST00000398654.3:c.54A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.27A>G
  hgvsp: ENST00000589917.1:c.27A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.54A>G
  hgvsp: ENST00000324794.7:c.54A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.138A>G
  hgvsp: ENST00000592221.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 40369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Glu18Glu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

18-44471020-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471020
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471020
    reference: chr 18
allele count: 1
allele frequency: 8.657708823936834e-6
allele num: 115504
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-3T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26265T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-3T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-3T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-3T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-3T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-3T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-3T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-3T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-3T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-3T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-3T>C
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.25-3T>C
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

18-44471025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471025
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471025
    reference: chr 18
allele count: 2
allele frequency: 1.7361412524523e-5
allele num: 115198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26260C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-8C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-8C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-8C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-8C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-8C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-8C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-8C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-8C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-8C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-8C>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-8C>T
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.25-8C>T
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

18-44471028-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471028
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471028
    reference: chr 18
allele count: 1
allele frequency: 8.706099493305009e-6
allele num: 114862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-11T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26257T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-11T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-11T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-11T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-11T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-11T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-11T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-11T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-11T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-11T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-11T>C
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36250
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

18-44471029-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471029
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471030
    reference: chr 18
allele count: 230
allele frequency: 2.121536361288418e-3
allele num: 108412
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-13dupT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-13dupT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-13dupT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-13dupT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-13dupT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-13dupT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-13dupT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-13dupT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26255dupT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-13dupT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-13dupT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-13dupT
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32699
  bin: 2.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 10806
  bin: 2.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 1.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 1.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

18-44471029-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471029
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471028
    reference: chr 18
allele count: 27
allele frequency: 2.490499206729883e-4
allele num: 108412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26255delT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-13delT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-13delT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-13delT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-13delT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-13delT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-13delT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-13delT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-13delT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-13delT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-13delT
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-13delT
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10806
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32699
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: GA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP

18-44471030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471030
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471030
    reference: chr 18
allele count: 1
allele frequency: 9.300076260625336e-6
allele num: 107526
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-13T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-13T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-13T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-13T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-13T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-13T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-13T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-13T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-13T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26255T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-13T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-13T>C
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/18-44471038-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471038
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471037
    reference: chr 18
allele count: 72
allele frequency: 6.417913108587524e-4
allele num: 112186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-22delG
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-22delG
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26246delG
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-22delG
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-22delG
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-22delG
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-22delG
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-22delG
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-22delG
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-22delG
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-22delG
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-22delG
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30684
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12204
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 2
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: AC
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-44471038-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471038
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471038
    reference: chr 18
allele count: 1
allele frequency: 8.913768206371561e-6
allele num: 112186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-21T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-21T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-21T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-21T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-21T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-21T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-21T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-21T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-21T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26247T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-21T>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-21T>G
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

18-44471046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471046
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471046
    reference: chr 18
allele count: 1
allele frequency: 9.041918333393613e-6
allele num: 110596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26239G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-29G>A
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-44471051-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471051
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471051
    reference: chr 18
allele count: 1
allele frequency: 9.170273640965446e-6
allele num: 109048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-34G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-34G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-34G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-34G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-34G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26234G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-34G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-34G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-34G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-34G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-34G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-34G>T
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9588
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

18-44471053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471053
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471053
    reference: chr 18
allele count: 1
allele frequency: 9.176500816708572e-6
allele num: 108974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-36G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26232G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-36G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-36G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-36G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-36G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-36G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-36G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-36G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-36G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-36G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-36G>A
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

18-44471149-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471149
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471149
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 11512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-132A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26136A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-132A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-132A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-132A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-132A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-132A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-132A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-132A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-132A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-132A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-132A>G
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33646
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

18-44471186-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471186
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471186
    reference: chr 18
allele count: 2
allele frequency: 2.12449543233482e-4
allele num: 9414
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-169C>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-169C>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-169C>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-169C>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-169C>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-169C>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-169C>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-169C>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26099C>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-169C>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-169C>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-169C>A
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

18-44471207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471207
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471207
    reference: chr 18
allele count: 1
allele frequency: 1.094570928196147e-4
allele num: 9136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26078G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-190G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-190G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-190G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-190G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-190G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-190G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-190G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-190G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-190G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-190G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-190G>A
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

18-44471218-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44471218
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44471218
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 8980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-201T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+26067T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-201T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.127-201T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-201T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.110-201T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-201T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-201T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-201T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.310-201T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-3-201T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.109-201T>C
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12251
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

18-44480954-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44480954
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44480954
    reference: chr 18
allele count: 1
allele frequency: 1.417635384179189e-4
allele num: 7054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-4+2536A>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-9937A>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-9937A>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.126+2536A>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-9937A>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.109+2536A>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.208+2536A>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-9937A>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.108+2536A>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+16331A>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-9937A>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-9937A>T
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

18-44481178-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44481178
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44481178
    reference: chr 18
allele count: 1
allele frequency: 6.802721088435374e-4
allele num: 1470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-10161G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-10161G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-10161G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.108+2312G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-10161G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.208+2312G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-4+2312G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-10161G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-10161G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.109+2312G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+16107G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.126+2312G>A
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

18-44481222-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44481222
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44481222
    reference: chr 18
allele count: 114
allele frequency: 2.732502396931927e-2
allele num: 4172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-10205T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.208+2268T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-10205T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-4+2268T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-10205T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+16063T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.109+2268T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.108+2268T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-10205T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-10205T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-10205T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.126+2268T>C
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 2.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 2
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

18-44481261-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44481261
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44481261
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 4414
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.208+2229T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.126+2229T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.154-10244T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.103-10244T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-4+2229T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.108+2229T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.25-10244T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592212
  gene symbol: PIAS2
  hgvsc: ENST00000592212.1:n.109+2229T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.19-10244T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+16024T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.25-10244T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.25-10244T>C
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

18-44486182-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44486182
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44486182
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 4
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586634
  gene symbol: PIAS2
  hgvsc: ENST00000586634.1:n.126A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.24+11103A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.18+10610A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.153+11103A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.24+11103A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.102+13840A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.19+8A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.100-2584A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+11103A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.-105+8A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.24+11103A>G
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-110-2586A>G
  variant of: http://identifiers.org/hgnc/17311
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-105+8A>G
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-44496818-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44496818
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44496818
    reference: chr 18
allele count: 0
allele frequency: 0.0e0
allele num: 16
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.102+3204T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.24+467T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.24+467T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-111+3204T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586634
  gene symbol: PIAS2
  hgvsc: ENST00000586634.1:n.29+467T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.99+467T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.-194+1147T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468166
  ensembl transcript: ENST00000586953
  gene symbol: PIAS2
  hgvsc: ENST00000586953.1:c.-9T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.24+467T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+467T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.153+467T>C
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.-71+3204T>C
  variant of: http://identifiers.org/hgnc/17311
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/18-44497247-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44497247
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44497247
    reference: chr 18
allele count: 2
allele frequency: 1.088139281828074e-4
allele num: 18380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.-71+2775G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.153+38G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.24+38G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.24+38G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.99+38G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-111+2775G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.-194+718G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586634
  gene symbol: PIAS2
  hgvsc: ENST00000586634.1:n.29+38G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+38G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.24+38G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.102+2775G>T
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4057
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/18-44497252-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44497252
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44497252
    reference: chr 18
allele count: 1
allele frequency: 5.441880713974749e-5
allele num: 18376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.24+33G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.153+33G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.24+33G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.-194+713G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+33G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586634
  gene symbol: PIAS2
  hgvsc: ENST00000586634.1:n.29+33G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-111+2770G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.-71+2770G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.99+33G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.102+2770G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.24+33G>T
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

18-44497256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44497256
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44497256
    reference: chr 18
allele count: 1
allele frequency: 5.443658138268917e-5
allele num: 18370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.-71+2766G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.24+29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465312
  ensembl transcript: ENST00000589917
  gene symbol: PIAS2
  hgvsc: ENST00000589917.1:c.-111+2766G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000590127
  gene symbol: PIAS2
  hgvsc: ENST00000590127.1:n.153+29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000465676
  ensembl transcript: ENST00000585916
  gene symbol: PIAS2
  hgvsc: ENST00000585916.1:c.24+29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.-194+709G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.99+29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586634
  gene symbol: PIAS2
  hgvsc: ENST00000586634.1:n.29+29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+29G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000592011
  gene symbol: PIAS2
  hgvsc: ENST00000592011.1:n.102+2766G>A
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.24+29G>A
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/18-44497277-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44497277
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 44497277
    reference: chr 18
allele count: 1
allele frequency: 5.421817393190197e-5
allele num: 18444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000381648
  ensembl transcript: ENST00000398654
  gene symbol: PIAS2
  hgvsc: ENST00000398654.3:c.24+8G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000317163
  ensembl transcript: ENST00000324794
  gene symbol: PIAS2
  hgvsc: ENST00000324794.7:c.24+8G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000466596
  ensembl transcript: ENST00000592221
  gene symbol: PIAS2
  hgvsc: ENST00000592221.1:c.-194+688G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586170
  gene symbol: PIAS2
  hgvsc: ENST00000586170.1:n.99+8G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000443238
  ensembl transcript: ENST00000545673
  gene symbol: PIAS2
  hgvsc: ENST00000545673.1:c.-372+8G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl protein: ENSP00000468017
  ensembl transcript: ENST00000587810
  gene symbol: PIAS2
  hgvsc: ENST00000587810.1:c.-71+2745G>T
  variant of: http://identifiers.org/hgnc/17311
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000078043
  ensembl transcript: ENST00000586634
  gene symbol: PIAS2
  hgvsc: ENST00000586634.1:n.29+8G>T
  variant of: http://identifiers.org/hgnc/17311
canonical: true
consequence: splice region
filter: PASS
hgvs: c.24+8G>T
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50772
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5086
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
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: 2
allele frequency: 2.31535077564251e-4
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.508e1

VQSLOD
type: SiteQuality
SIO_000300: 4.61e-1

DP
type: SiteQuality
SIO_000300: 1.45506e6

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5096
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

FS
type: SiteQuality
SIO_000300: 1.1149e1

QD
type: SiteQuality
SIO_000300: 1.325e1

DP
type: SiteQuality
SIO_000300: 1.454764e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.098e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.800312012480499e-4
allele num: 11538
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

FS
type: SiteQuality
SIO_000300: 3.332e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.355e1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.455494e6

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5088
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50756
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.455494e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

FS
type: SiteQuality
SIO_000300: 3.332e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.355e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1264
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 585
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

FS
type: SiteQuality
SIO_000300: 4.597e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

QD
type: SiteQuality
SIO_000300: 1.55e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.457046e6

GenotypeQuality
all individuals: 1267
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50904
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 773
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 588
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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: 8644
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.45737e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.382e1

MQRankSum
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SIO_000300: 9.71e-1

FS
type: SiteQuality
SIO_000300: 1.8726e1

VQSLOD
type: SiteQuality
SIO_000300: -2.818e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 50893
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
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allele count: 0
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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
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SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 1.757e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

DP
type: SiteQuality
SIO_000300: 1.457774e6

QD
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SIO_000300: 1.478e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6610
num of homozygotes: 0

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

DP
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SIO_000300: 1.458279e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
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MQ
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BaseQRankSum
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SIO_000300: -2.269e0

ClippingRankSum
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SIO_000300: -1.712e0

ReadPosRankSum
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SIO_000300: 1.52e0

QD
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SIO_000300: 4.7e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11542
num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.458751e6

ClippingRankSum
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SIO_000300: -2.31e-1

QD
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BaseQRankSum
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SIO_000300: 3.49e0

FS
type: SiteQuality
SIO_000300: 3.217e0

MQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Other
type: Population
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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
allele num: 66706
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.183e1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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MQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.756e0

ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11550
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

East Asian
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FS
type: SiteQuality
SIO_000300: 5.92e-1

ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 3.0e-4

QD
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
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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African
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South Asian
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
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MQRankSum
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QD
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele num: 8648
num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

South Asian
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VQSLOD
type: SiteQuality
SIO_000300: 3.96e-1

BaseQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
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ClippingRankSum
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8650
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

Other
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South Asian
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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QD
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ClippingRankSum
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SIO_000300: 2.26e0

MQ
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SIO_000300: 5.975e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66712
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

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

Other
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MQRankSum
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SIO_000300: -1.138e0

FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11566
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66716
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 1.459712e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
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: 2.594258042199931e-4
allele num: 11564
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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DP
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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FS
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SIO_000300: 1.101e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

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

Latino
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African
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allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.458852e6

QD
type: SiteQuality
SIO_000300: 1.752e1

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.242e0

MQ
type: SiteQuality
SIO_000300: 4.973e1

FS
type: SiteQuality
SIO_000300: 3.429e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.422e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.746e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 584
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GenotypeQuality
all individuals: 1268
bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 1.711e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.379e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

QD
type: SiteQuality
SIO_000300: 1.296e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

DP
type: SiteQuality
SIO_000300: 1.458363e6

GenotypeQuality
all individuals: 123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 92

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 50963
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.848484848484848e-4
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 39
allele frequency: 5.896583005745389e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 6.449677516124194e-4
allele num: 66670
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: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.234e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.464633e6

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 1157
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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
all individuals: 41
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 782
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variant carriers: 2

GenotypeQuality
all individuals: 51022
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.931993817619784e-4
allele num: 10352
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

FS
type: SiteQuality
SIO_000300: 3.708e0

QD
type: SiteQuality
SIO_000300: 1.196e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

DP
type: SiteQuality
SIO_000300: 1.45883e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeDepth
all individuals: 41679
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variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 238
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1157
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GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 214
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GenotypeQuality
all individuals: 588
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GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 5110
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 781
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variant carriers: 1

GenotypeQuality
all individuals: 1263
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variant carriers: 0

GenotypeQuality
all individuals: 188
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GenotypeQuality
all individuals: 50917
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 10318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.457379e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

FS
type: SiteQuality
SIO_000300: 4.08e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 1.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 50870
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 238
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GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
all individuals: 212
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GenotypeQuality
all individuals: 585
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GenotypeQuality
all individuals: 830
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variant carriers: 52

GenotypeQuality
all individuals: 1152
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GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 5102
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 53
allele frequency: 3.211731911283481e-3
allele num: 16502
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

DP
type: SiteQuality
SIO_000300: 1.461509e6

FS
type: SiteQuality
SIO_000300: 5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.239e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

GenotypeDepth
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 240
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 811
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.805844283192783e-5
allele num: 10198
num of homozygotes: 0

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

Latino
type: Population
allele count: 25
allele frequency: 2.165627165627165e-3
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.424536307431204e-4
allele num: 16498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.457047e6

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

GenotypeDepth
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5070
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variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004627125773691e-5
allele num: 66564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.164e1

DP
type: SiteQuality
SIO_000300: 1.454887e6

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
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SIO_000300: -2.287e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.311e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-1

GenotypeDepth
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 217
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 18
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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: 1.158211721102618e-4
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num of homozygotes: 0

South Asian
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InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
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MQ
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VQSLOD
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DP
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MQRankSum
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QD
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FS
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BaseQRankSum
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SIO_000300: -1.124e0

ClippingRankSum
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SIO_000300: 4.72e-1

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66522
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Latino
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allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6604
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South Asian
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ClippingRankSum
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VQSLOD
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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QD
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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: 8.670019074041963e-5
allele num: 11534
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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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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East Asian
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South Asian
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MQ
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
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DP
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SIO_000300: 1.453987e6

GenotypeDepth
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variant carriers: 0

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

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

East Asian
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66498
num of homozygotes: 0

Other
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Latino
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num of homozygotes: 0

African
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DP
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MQ
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
allele num: 11528
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 66392
num of homozygotes: 0

East Asian
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African
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South Asian
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allele num: 16466
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Other
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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variant carriers: 1

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

Other
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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East Asian
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African
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European (Finnish)
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BaseQRankSum
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VQSLOD
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FS
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DP
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MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66006
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 888
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

African
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allele count: 1
allele frequency: 1.035840066293764e-4
allele num: 9654
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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

MQRankSum
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SIO_000300: 3.4e-1

InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 3.979e0

BaseQRankSum
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SIO_000300: 5.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 1.441252e6

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.515013786625458e-5
allele num: 66006
num of homozygotes: 0

East Asian
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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
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num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: 7.75e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -3.0e-4

MQ
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VQSLOD
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QD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: -8.46e-1

MQRankSum
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SIO_000300: -5.639999999999999e-1

DP
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SIO_000300: 1.441116e6

GenotypeDepth
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variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519756838905775e-5
allele num: 65800
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

ClippingRankSum
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SIO_000300: -1.531e0

ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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SIO_000300: -1.056e0

FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.031e0

DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.781e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.041547539388041e-5
allele num: 65756
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.432906e6

ClippingRankSum
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SIO_000300: -6.7e-2

FS
type: SiteQuality
SIO_000300: 5.76e-1

QD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: 4.95e0

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 1.33e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.055520371543171e-4
allele num: 9474
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
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allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65716
num of homozygotes: 0

South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

QD
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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SIO_000300: 1.37e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522997258604934e-5
allele num: 65660
num of homozygotes: 0

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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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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QD
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ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 6

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.525087692542321e-5
allele num: 65570
num of homozygotes: 0

African
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South Asian
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allele frequency: 2.65072124275675e-3
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Latino
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European (Finnish)
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560598021161709e-5
allele num: 64078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8242
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.478e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.61e0

DP
type: SiteQuality
SIO_000300: 1.360148e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 1.347e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeDepth
all individuals: 11
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variant carriers: 0

GenotypeDepth
all individuals: 11
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variant carriers: 0

GenotypeDepth
all individuals: 11307
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variant carriers: 0

GenotypeDepth
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 7.5e0
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GenotypeQuality
all individuals: 1122
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variant carriers: 0

GenotypeQuality
all individuals: 209
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variant carriers: 0

GenotypeQuality
all individuals: 548
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GenotypeQuality
all individuals: 1048
bin: 7.75e1
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GenotypeQuality
all individuals: 159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 43315
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 625
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4350
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.189621195533173e-4
allele num: 9134
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63928
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.441e0

DP
type: SiteQuality
SIO_000300: 1.357211e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.24e-1

QD
type: SiteQuality
SIO_000300: 1.462e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

FS
type: SiteQuality
SIO_000300: 6.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

GenotypeDepth
all individuals: 28
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 1062
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 293
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GenotypeQuality
all individuals: 1039
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GenotypeQuality
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GenotypeQuality
all individuals: 4305
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GenotypeQuality
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GenotypeQuality
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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: 551
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GenotypeQuality
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GenotypeQuality
all individuals: 687
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variant carriers: 0

GenotypeQuality
all individuals: 790
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variant carriers: 1

GenotypeQuality
all individuals: 211
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variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.626027034190299e-5
allele num: 15092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9098
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 7.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.678e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

DP
type: SiteQuality
SIO_000300: 1.350761e6

GenotypeDepth
all individuals: 266
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 878
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 955
bin: 3.75e1
variant carriers: 37

GenotypeQuality
all individuals: 625
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variant carriers: 9

GenotypeQuality
all individuals: 704
bin: 4.25e1
variant carriers: 22

GenotypeQuality
all individuals: 776
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1279
bin: 2.75e1
variant carriers: 39

GenotypeQuality
all individuals: 753
bin: 4.75e1
variant carriers: 21

GenotypeQuality
all individuals: 4727
bin: 2.25e1
variant carriers: 20

GenotypeQuality
all individuals: 647
bin: 1.25e1
variant carriers: 28

GenotypeQuality
all individuals: 1877
bin: 2.5e0
variant carriers: 12

GenotypeQuality
all individuals: 1174
bin: 3.25e1
variant carriers: 32

GenotypeQuality
all individuals: 3533
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 697
bin: 5.25e1
variant carriers: 10

GenotypeQuality
all individuals: 637
bin: 5.75e1
variant carriers: 10

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38531
bin: 6.25e1
variant carriers: 11

GenotypeQuality
all individuals: 584
bin: 1.75e1
variant carriers: 22

GenotypeQuality
all individuals: 1467
bin: 7.5e0
variant carriers: 21

GenotypeQuality
all individuals: 152
bin: 9.25e1
variant carriers: 2

South Asian
type: Population
allele count: 101
allele frequency: 7.911640294532351e-3
allele num: 12766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.074085459575776e-4
allele num: 6506
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.55820348304308e-3
allele num: 10910
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.270971021860701e-3
allele num: 7868
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 1.029983978027008e-3
allele num: 8738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 89
allele frequency: 1.463286310874355e-3
allele num: 60822
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.493765586034913e-3
allele num: 802
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.529e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

FS
type: SiteQuality
SIO_000300: 3.289e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.79e-1

DP
type: SiteQuality
SIO_000300: 1.437499e6

QD
type: SiteQuality
SIO_000300: 9.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

GenotypeDepth
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1467
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 647
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variant carriers: 1

GenotypeQuality
all individuals: 3533
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variant carriers: 0

GenotypeQuality
all individuals: 152
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variant carriers: 0

GenotypeQuality
all individuals: 1877
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GenotypeQuality
all individuals: 753
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
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variant carriers: 8

GenotypeQuality
all individuals: 1174
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 776
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variant carriers: 0

GenotypeQuality
all individuals: 878
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GenotypeQuality
all individuals: 38531
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4727
bin: 2.25e1
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GenotypeQuality
all individuals: 584
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 955
bin: 3.75e1
variant carriers: 3

GenotypeQuality
all individuals: 697
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 625
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 372
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 151
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 9.165902841429881e-5
allele num: 10910
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.144426642252232e-4
allele num: 8738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.452698036894545e-4
allele num: 60822
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.349992166692778e-4
allele num: 12766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7868
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.246882793017456e-3
allele num: 802
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.529e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
SIO_000300: 9.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

FS
type: SiteQuality
SIO_000300: 3.289e0

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

DP
type: SiteQuality
SIO_000300: 1.437499e6

GenotypeDepth
all individuals: 30
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38417
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variant carriers: 0

GenotypeQuality
all individuals: 686
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GenotypeQuality
all individuals: 2259
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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: 768
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 153
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GenotypeQuality
all individuals: 4867
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GenotypeQuality
all individuals: 688
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variant carriers: 0

GenotypeQuality
all individuals: 3613
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GenotypeQuality
all individuals: 157
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GenotypeQuality
all individuals: 588
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GenotypeQuality
all individuals: 603
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
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GenotypeQuality
all individuals: 873
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60450
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.047642040882022e-5
allele num: 12426
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.8e-2

QD
type: SiteQuality
SIO_000300: 1.19e1

FS
type: SiteQuality
SIO_000300: 4.925e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.432329e6

MQRankSum
type: SiteQuality
SIO_000300: -1.27e0

GenotypeDepth
all individuals: 38
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 165
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 214
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GenotypeQuality
all individuals: 169
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GenotypeQuality
all individuals: 1003
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GenotypeQuality
all individuals: 4051
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 3.75e1
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GenotypeQuality
all individuals: 703
bin: 9.75e1
variant carriers: 70

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.201923076923077e-3
allele num: 832
num of homozygotes: 0

African
type: Population
allele count: 71
allele frequency: 7.91174504123022e-3
allele num: 8974
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14232
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MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

MQ
type: SiteQuality
SIO_000300: 6.026e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.392e1

DP
type: SiteQuality
SIO_000300: 1.307321e6

BaseQRankSum
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SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1275
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GenotypeQuality
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GenotypeQuality
all individuals: 275
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GenotypeQuality
all individuals: 914
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GenotypeQuality
all individuals: 6978
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GenotypeQuality
all individuals: 703
bin: 3.75e1
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GenotypeQuality
all individuals: 703
bin: 9.75e1
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GenotypeQuality
all individuals: 168
bin: 9.25e1
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GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
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GenotypeQuality
all individuals: 214
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.026419336706015e-5
allele num: 14232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

East Asian
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allele count: 0
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Other
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VQSLOD
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MQ
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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SIO_000300: 1.5e0

MQRankSum
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SIO_000300: 5.51e-1

InbreedingCoeff
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SIO_000300: 9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

DP
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SIO_000300: 1.307321e6

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8812
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61660
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 frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 9.044862518089724e-5
allele num: 11056
num of homozygotes: 0

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

South Asian
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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FS
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ClippingRankSum
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BaseQRankSum
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SIO_000300: -3.636e0

MQ
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SIO_000300: 5.933e1

DP
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.644141922330736e-5
allele num: 60822
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

ReadPosRankSum
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

FS
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InbreedingCoeff
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DP
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SIO_000300: 1.210941e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 4108
num of homozygotes: 0

South Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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Other
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East Asian
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2852
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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Other
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European (Finnish)
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South Asian
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allele frequency: 3.50385423966363e-4
allele num: 5708
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FS
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DP
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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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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GenotypeQuality
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Other
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.681885125184094e-4
allele num: 2716
num of homozygotes: 0

Latino
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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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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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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European (Non-Finnish)
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Latino
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VQSLOD
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DP
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QD
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MQ
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FS
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InbreedingCoeff
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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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Other
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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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African
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FS
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MQRankSum
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.173913043478261e-3
allele num: 460
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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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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.0e-2
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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Latino
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DP
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VQSLOD
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MQ
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QD
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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ClippingRankSum
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VQSLOD
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FS
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DP
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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MQ
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MQRankSum
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QD
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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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South Asian
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East Asian
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BaseQRankSum
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QD
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DP
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.379690949227373e-4
allele num: 7248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.19893e5

QD
type: SiteQuality
SIO_000300: 1.532e1

FS
type: SiteQuality
SIO_000300: 2.453e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.047e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.684e0

VQSLOD
type: SiteQuality
SIO_000300: -1.811e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.76e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQ
type: SiteQuality
SIO_000300: 4.526e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.24e-1

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9335
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 153
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 124
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 379
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4249
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.283697047496791e-4
allele num: 7790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7222
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.785e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.19847e5

MQRankSum
type: SiteQuality
SIO_000300: 9.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.58e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e0

QD
type: SiteQuality
SIO_000300: 1.091e1