2-44549978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44549978
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44549978
    reference: chr 2
allele count: 1
allele frequency: 8.273899157717065e-6
allele num: 120862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.57C>T
  hgvsp: ENSP00000395692.1:p.His20Tyr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1726C>T
  hgvsp: ENSP00000367772.3:p.His576Tyr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1714C>T
  hgvsp: ENSP00000367781.3:p.His572Tyr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1912C>T
  hgvsp: ENSP00000386543.1:p.His638Tyr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1912C>T
  hgvsp: ENSP00000391456.1:p.His638Tyr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1912C>T
  hgvsp: ENSP00000260648.6:p.His638Tyr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1912C>T
  hgvsp: ENSP00000386909.1:p.His638Tyr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1912C>T
  hgvsp: ENSP00000386509.1:p.His638Tyr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1645C>T
  hgvsp: ENSP00000387095.1:p.His549Tyr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1645C>T
  hgvsp: ENSP00000439626.1:p.His549Tyr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1912C>T
  hgvsp: ENSP00000409480.1:p.His638Tyr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.97C>T
  hgvsp: ENSP00000390618.1:p.His33Tyr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1645C>T
  hgvsp: ENSP00000387241.1:p.His549Tyr
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His638Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-44549981-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44549981
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44549981
    reference: chr 2
allele count: 2
allele frequency: 1.655711376392867e-5
allele num: 120794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.94A>G
  hgvsp: ENSP00000390618.1:p.Ile32Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.54A>G
  hgvsp: ENSP00000395692.1:p.Ile19Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1642A>G
  hgvsp: ENSP00000439626.1:p.Ile548Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1909A>G
  hgvsp: ENSP00000391456.1:p.Ile637Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1723A>G
  hgvsp: ENSP00000367772.3:p.Ile575Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1909A>G
  hgvsp: ENSP00000409480.1:p.Ile637Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1909A>G
  hgvsp: ENSP00000260648.6:p.Ile637Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1711A>G
  hgvsp: ENSP00000367781.3:p.Ile571Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1909A>G
  hgvsp: ENSP00000386909.1:p.Ile637Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1642A>G
  hgvsp: ENSP00000387095.1:p.Ile548Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1909A>G
  hgvsp: ENSP00000386543.1:p.Ile637Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1909A>G
  hgvsp: ENSP00000386509.1:p.Ile637Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1642A>G
  hgvsp: ENSP00000387241.1:p.Ile548Val
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile637Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-44549987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44549987
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44549987
    reference: chr 2
allele count: 4
allele frequency: 3.320494089520521e-5
allele num: 120464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1717C>T
  hgvsp: ENSP00000367772.3:p.Pro573Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1903C>T
  hgvsp: ENSP00000260648.6:p.Pro635Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1903C>T
  hgvsp: ENSP00000386543.1:p.Pro635Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1636C>T
  hgvsp: ENSP00000439626.1:p.Pro546Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1903C>T
  hgvsp: ENSP00000386509.1:p.Pro635Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1636C>T
  hgvsp: ENSP00000387241.1:p.Pro546Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1903C>T
  hgvsp: ENSP00000386909.1:p.Pro635Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1705C>T
  hgvsp: ENSP00000367781.3:p.Pro569Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.48C>T
  hgvsp: ENSP00000395692.1:p.Pro17Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1903C>T
  hgvsp: ENSP00000391456.1:p.Pro635Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.88C>T
  hgvsp: ENSP00000390618.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1903C>T
  hgvsp: ENSP00000409480.1:p.Pro635Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1636C>T
  hgvsp: ENSP00000387095.1:p.Pro546Ser
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5768
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro635Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

2-44549992-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44549992
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44549992
    reference: chr 2
allele count: 3
allele frequency: 2.494553558064892e-5
allele num: 120262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1700A>T
  hgvsp: ENSP00000367781.3:p.His567Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1898A>T
  hgvsp: ENSP00000260648.6:p.His633Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1898A>T
  hgvsp: ENSP00000391456.1:p.His633Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1898A>T
  hgvsp: ENSP00000386909.1:p.His633Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1898A>T
  hgvsp: ENSP00000409480.1:p.His633Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1631A>T
  hgvsp: ENSP00000439626.1:p.His544Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1631A>T
  hgvsp: ENSP00000387241.1:p.His544Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1712A>T
  hgvsp: ENSP00000367772.3:p.His571Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1631A>T
  hgvsp: ENSP00000387095.1:p.His544Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.83A>T
  hgvsp: ENSP00000390618.1:p.His28Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1898A>T
  hgvsp: ENSP00000386543.1:p.His633Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1898A>T
  hgvsp: ENSP00000386509.1:p.His633Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.43A>T
  hgvsp: ENSP00000395692.1:p.His15Leu
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His633Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-44549992-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44549992
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44549992
    reference: chr 2
allele count: 1
allele frequency: 8.315178526882972e-6
allele num: 120262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1898A>G
  hgvsp: ENSP00000260648.6:p.His633Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.83A>G
  hgvsp: ENSP00000390618.1:p.His28Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1631A>G
  hgvsp: ENSP00000439626.1:p.His544Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1712A>G
  hgvsp: ENSP00000367772.3:p.His571Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1898A>G
  hgvsp: ENSP00000391456.1:p.His633Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.43A>G
  hgvsp: ENSP00000395692.1:p.His15Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1631A>G
  hgvsp: ENSP00000387095.1:p.His544Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1631A>G
  hgvsp: ENSP00000387241.1:p.His544Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1898A>G
  hgvsp: ENSP00000386909.1:p.His633Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1898A>G
  hgvsp: ENSP00000409480.1:p.His633Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1898A>G
  hgvsp: ENSP00000386509.1:p.His633Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1700A>G
  hgvsp: ENSP00000367781.3:p.His567Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1898A>G
  hgvsp: ENSP00000386543.1:p.His633Arg
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His633Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-44549997-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44549997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44549997
    reference: chr 2
allele count: 2
allele frequency: 1.667000066680003e-5
allele num: 119976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.42-4T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1699-4T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1897-4T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1711-4T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1630-4T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1897-4T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1897-4T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1897-4T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1897-4T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1630-4T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1897-4T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1630-4T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.82-4T>G
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1897-4T>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-44550008-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550008
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550008
    reference: chr 2
allele count: 320
allele frequency: 2.685014264138278e-3
allele num: 119180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1897-15T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1897-15T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1630-15T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1711-15T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1897-15T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1699-15T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1897-15T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.42-15T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1897-15T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1630-15T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.82-15T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1630-15T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1897-15T>C
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5402
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3080
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5875
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 2
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-44550013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550013
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550013
    reference: chr 2
allele count: 5
allele frequency: 4.206700432448804e-5
allele num: 118858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1711-20G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1630-20G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.42-20G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1897-20G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1630-20G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1897-20G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1699-20G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1630-20G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1897-20G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1897-20G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1897-20G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1897-20G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.82-20G>A
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-44550014-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550014
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550014
    reference: chr 2
allele count: 1
allele frequency: 8.412409987213136e-6
allele num: 118872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1699-21C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1630-21C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1711-21C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.42-21C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1897-21C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1897-21C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1897-21C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1897-21C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1897-21C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.82-21C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1630-21C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1630-21C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1897-21C>T
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

2-44550019-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550019
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550019
    reference: chr 2
allele count: 135
allele frequency: 1.137225170583776e-3
allele num: 118710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1897-26C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1630-26C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1630-26C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1699-26C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1897-26C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1630-26C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1897-26C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1897-26C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1711-26C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1897-26C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.82-26C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.42-26C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1897-26C>T
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 9.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-44550034-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550034
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550034
    reference: chr 2
allele count: 1
allele frequency: 8.497909514259493e-6
allele num: 117676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1897-41A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1897-41A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1711-41A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.42-41A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.82-41A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1630-41A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1897-41A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1897-41A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1897-41A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1630-41A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1897-41A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1699-41A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1630-41A>G
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-44550040-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550040
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550040
    reference: chr 2
allele count: 1
allele frequency: 8.536793580331227e-6
allele num: 117140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1897-47G>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1630-47G>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1699-47G>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.42-47G>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.82-47G>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1897-47G>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1630-47G>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1897-47G>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1897-47G>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1897-47G>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1897-47G>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1711-47G>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1630-47G>T
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

2-44550043-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550043
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550043
    reference: chr 2
allele count: 9
allele frequency: 7.695333207927904e-5
allele num: 116954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1630-50A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1711-50A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1897-50A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1897-50A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.82-50A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.42-50A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1897-50A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1897-50A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1897-50A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1897-50A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1699-50A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1630-50A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1630-50A>G
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

2-44550045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550045
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550045
    reference: chr 2
allele count: 1
allele frequency: 8.574123295892996e-6
allele num: 116630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1711-52C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1897-52C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.82-52C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1630-52C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1630-52C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1897-52C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1699-52C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1897-52C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1897-52C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1897-52C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1897-52C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.42-52C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1630-52C>T
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

2-44550350-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550350
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550350
    reference: chr 2
allele count: 4
allele frequency: 3.581533612692955e-5
allele num: 111684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+51T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+51T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+51T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+51T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+51T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+51T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+51T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+51T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+51T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+51T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+51T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+51T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+51T>A
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-44550353-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550353
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550353
    reference: chr 2
allele count: 4
allele frequency: 3.546979746745646e-5
allele num: 112772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+48T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+48T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+48T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+48T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+48T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+48T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+48T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+48T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+48T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+48T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+48T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+48T>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+48T>A
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

2-44550361-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550361
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550361
    reference: chr 2
allele count: 9
allele frequency: 7.932171123371702e-5
allele num: 113462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+40A>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+40A>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+40A>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+40A>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+40A>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+40A>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+40A>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+40A>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+40A>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+40A>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+40A>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+40A>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+40A>T
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18159
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20190
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-44550371-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550371
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550371
    reference: chr 2
allele count: 1
allele frequency: 8.738508860847985e-6
allele num: 114436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+30C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+30C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+30C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+30C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+30C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+30C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+30C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+30C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+30C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+30C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+30C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+30C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+30C>T
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

2-44550375-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550375
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550375
    reference: chr 2
allele count: 1
allele frequency: 8.707767328456984e-6
allele num: 114840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+26T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+26T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+26T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+26T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+26T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+26T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+26T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+26T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+26T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+26T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+26T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+26T>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+26T>C
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-44550378-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550378
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550378
    reference: chr 2
allele count: 2
allele frequency: 1.738072477622317e-5
allele num: 115070
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+23G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+23G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+23G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+23G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+23G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+23G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+23G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+23G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+23G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+23G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+23G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+23G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+23G>C
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-44550381-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550381
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550382
    reference: chr 2
allele count: 3
allele frequency: 2.597087798881521e-5
allele num: 115514
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+19dupG
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+19dupG
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+19dupG
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+19dupG
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+19dupG
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+19dupG
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+19dupG
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+19dupG
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+19dupG
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+19dupG
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+19dupG
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+19dupG
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+19dupG
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

2-44550382-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550382
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550382
    reference: chr 2
allele count: 1
allele frequency: 8.652165637058956e-6
allele num: 115578
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+19G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+19G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+19G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+19G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+19G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+19G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+19G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+19G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+19G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+19G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+19G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+19G>C
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+19G>C
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

2-44550384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550384
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550384
    reference: chr 2
allele count: 1
allele frequency: 8.623812069887374e-6
allele num: 115958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+17G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+17G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+17G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+17G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+17G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+17G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+17G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+17G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+17G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+17G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+17G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+17G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+17G>A
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-44550387-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550387
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550387
    reference: chr 2
allele count: 4
allele frequency: 3.437725600742549e-5
allele num: 116356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+14A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+14A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+14A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+14A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+14A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+14A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+14A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+14A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+14A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+14A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+14A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+14A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+14A>G
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

2-44550388-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550388
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550388
    reference: chr 2
allele count: 1
allele frequency: 8.587819037477242e-6
allele num: 116444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+13A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+13A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+13A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+13A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+13A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+13A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+13A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+13A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+13A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+13A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+13A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+13A>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+13A>G
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21017
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-44550389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550389
    reference: chr 2
allele count: 12
allele frequency: 1.029530362566276e-4
allele num: 116558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+12C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+12C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+12C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+12C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+12C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+12C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+12C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+12C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+12C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+12C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+12C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+12C>T
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+12C>T
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21035
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ

2-44550389-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550389
    reference: chr 2
allele count: 1
allele frequency: 8.5794196880523e-6
allele num: 116558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+12C>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+12C>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+12C>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+12C>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+12C>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+12C>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+12C>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+12C>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+12C>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+12C>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+12C>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+12C>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+12C>G
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

2-44550395-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550395
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550395
    reference: chr 2
allele count: 9
allele frequency: 7.672241829062452e-5
allele num: 117306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+6G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+6G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+6G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+6G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+6G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+6G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+6G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+6G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+6G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+6G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+6G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+6G>A
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+6G>A
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21188
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.1896+6G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/2-44550396-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550396
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550396
    reference: chr 2
allele count: 1
allele frequency: 8.506149946411256e-6
allele num: 117562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1896+5T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1896+5T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1698+5T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.41+5T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1629+5T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1629+5T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1896+5T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1896+5T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1896+5T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1629+5T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1896+5T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1710+5T>G
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.81+5T>G
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1896+5T>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-44550403-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550403
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550403
    reference: chr 2
allele count: 1
allele frequency: 8.426161546369167e-6
allele num: 118678
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1696C>G
  hgvsp: ENSP00000367781.3:p.Gln566Glu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1894C>G
  hgvsp: ENSP00000386909.1:p.Gln632Glu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.79C>G
  hgvsp: ENSP00000390618.1:p.Gln27Glu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1708C>G
  hgvsp: ENSP00000367772.3:p.Gln570Glu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1627C>G
  hgvsp: ENSP00000387095.1:p.Gln543Glu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1627C>G
  hgvsp: ENSP00000439626.1:p.Gln543Glu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1894C>G
  hgvsp: ENSP00000409480.1:p.Gln632Glu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1894C>G
  hgvsp: ENSP00000386543.1:p.Gln632Glu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1894C>G
  hgvsp: ENSP00000260648.6:p.Gln632Glu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1894C>G
  hgvsp: ENSP00000386509.1:p.Gln632Glu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.39C>G
  hgvsp: ENSP00000395692.1:p.Gln14Glu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1894C>G
  hgvsp: ENSP00000391456.1:p.Gln632Glu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1627C>G
  hgvsp: ENSP00000387241.1:p.Gln543Glu
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln632Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-44550407-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550407
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550407
    reference: chr 2
allele count: 5
allele frequency: 4.197236539462418e-5
allele num: 119126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1890A>G
  hgvsp: ENST00000409272.1:c.1890A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1890A>G
  hgvsp: ENST00000426481.1:c.1890A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.35A>G
  hgvsp: ENST00000420756.1:c.35A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1890A>G
  hgvsp: ENST00000260648.6:c.1890A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1692A>G
  hgvsp: ENST00000378520.3:c.1692A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1890A>G
  hgvsp: ENST00000410081.1:c.1890A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1623A>G
  hgvsp: ENST00000541738.1:c.1623A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.75A>G
  hgvsp: ENST00000444696.1:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1890A>G
  hgvsp: ENST00000409936.1:c.1890A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1704A>G
  hgvsp: ENST00000378511.3:c.1704A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1890A>G
  hgvsp: ENST00000425263.1:c.1890A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1623A>G
  hgvsp: ENST00000409411.1:c.1623A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1623A>G
  hgvsp: ENST00000409957.1:c.1623A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys630Lys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

2-44550411-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550411
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550411
    reference: chr 2
allele count: 1
allele frequency: 8.35952651641811e-6
allele num: 119624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1619T>C
  hgvsp: ENSP00000439626.1:p.Ile540Thr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1688T>C
  hgvsp: ENSP00000367781.3:p.Ile563Thr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1619T>C
  hgvsp: ENSP00000387241.1:p.Ile540Thr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1886T>C
  hgvsp: ENSP00000260648.6:p.Ile629Thr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1886T>C
  hgvsp: ENSP00000386543.1:p.Ile629Thr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1886T>C
  hgvsp: ENSP00000409480.1:p.Ile629Thr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1700T>C
  hgvsp: ENSP00000367772.3:p.Ile567Thr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1886T>C
  hgvsp: ENSP00000386509.1:p.Ile629Thr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.31T>C
  hgvsp: ENSP00000395692.1:p.Ile11Thr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1886T>C
  hgvsp: ENSP00000391456.1:p.Ile629Thr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1886T>C
  hgvsp: ENSP00000386909.1:p.Ile629Thr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1619T>C
  hgvsp: ENSP00000387095.1:p.Ile540Thr
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.71T>C
  hgvsp: ENSP00000390618.1:p.Ile24Thr
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile629Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-44550420-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550420
    reference: chr 2
allele count: 2
allele frequency: 1.662565671344018e-5
allele num: 120296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1679A>G
  hgvsp: ENSP00000367781.3:p.Tyr560Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.62A>G
  hgvsp: ENSP00000390618.1:p.Tyr21Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1877A>G
  hgvsp: ENSP00000386543.1:p.Tyr626Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1877A>G
  hgvsp: ENSP00000409480.1:p.Tyr626Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1610A>G
  hgvsp: ENSP00000387095.1:p.Tyr537Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1610A>G
  hgvsp: ENSP00000439626.1:p.Tyr537Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1877A>G
  hgvsp: ENSP00000386909.1:p.Tyr626Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1877A>G
  hgvsp: ENSP00000391456.1:p.Tyr626Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1877A>G
  hgvsp: ENSP00000260648.6:p.Tyr626Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1691A>G
  hgvsp: ENSP00000367772.3:p.Tyr564Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.22A>G
  hgvsp: ENSP00000395692.1:p.Tyr8Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1610A>G
  hgvsp: ENSP00000387241.1:p.Tyr537Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1877A>G
  hgvsp: ENSP00000386509.1:p.Tyr626Cys
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr626Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-44550422-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550422
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550422
    reference: chr 2
allele count: 2
allele frequency: 1.661377946869133e-5
allele num: 120382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1608C>T
  hgvsp: ENST00000541738.1:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1875C>T
  hgvsp: ENST00000425263.1:c.1875C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1875C>T
  hgvsp: ENST00000426481.1:c.1875C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1689C>T
  hgvsp: ENST00000378511.3:c.1689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1677C>T
  hgvsp: ENST00000378520.3:c.1677C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.20C>T
  hgvsp: ENST00000420756.1:c.20C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1608C>T
  hgvsp: ENST00000409411.1:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.60C>T
  hgvsp: ENST00000444696.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1875C>T
  hgvsp: ENST00000409936.1:c.1875C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1875C>T
  hgvsp: ENST00000409272.1:c.1875C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1875C>T
  hgvsp: ENST00000260648.6:c.1875C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1875C>T
  hgvsp: ENST00000410081.1:c.1875C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1608C>T
  hgvsp: ENST00000409957.1:c.1608C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro625Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

2-44550422-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550422
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550422
    reference: chr 2
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1608C>G
  hgvsp: ENST00000541738.1:c.1608C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1608C>G
  hgvsp: ENST00000409957.1:c.1608C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1689C>G
  hgvsp: ENST00000378511.3:c.1689C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1608C>G
  hgvsp: ENST00000409411.1:c.1608C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1677C>G
  hgvsp: ENST00000378520.3:c.1677C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1875C>G
  hgvsp: ENST00000410081.1:c.1875C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1875C>G
  hgvsp: ENST00000260648.6:c.1875C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.20C>G
  hgvsp: ENST00000420756.1:c.20C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1875C>G
  hgvsp: ENST00000425263.1:c.1875C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1875C>G
  hgvsp: ENST00000409272.1:c.1875C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1875C>G
  hgvsp: ENST00000409936.1:c.1875C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1875C>G
  hgvsp: ENST00000426481.1:c.1875C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.60C>G
  hgvsp: ENST00000444696.1:c.60C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro625Pro
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-44550432-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550432
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550432
    reference: chr 2
allele count: 14
allele frequency: 1.158902023111818e-4
allele num: 120804
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1598G>T
  hgvsp: ENSP00000387241.1:p.Arg533Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1865G>T
  hgvsp: ENSP00000391456.1:p.Arg622Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1865G>T
  hgvsp: ENSP00000409480.1:p.Arg622Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.10G>T
  hgvsp: ENSP00000395692.1:p.Arg4Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1598G>T
  hgvsp: ENSP00000439626.1:p.Arg533Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1865G>T
  hgvsp: ENSP00000386543.1:p.Arg622Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1667G>T
  hgvsp: ENSP00000367781.3:p.Arg556Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1598G>T
  hgvsp: ENSP00000387095.1:p.Arg533Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.50G>T
  hgvsp: ENSP00000390618.1:p.Arg17Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1865G>T
  hgvsp: ENSP00000386909.1:p.Arg622Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1865G>T
  hgvsp: ENSP00000260648.6:p.Arg622Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1865G>T
  hgvsp: ENSP00000386509.1:p.Arg622Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1679G>T
  hgvsp: ENSP00000367772.3:p.Arg560Leu
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23100
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg622Leu
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-44550432-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550432
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550432
    reference: chr 2
allele count: 3
allele frequency: 2.483361478096752e-5
allele num: 120804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1865G>A
  hgvsp: ENSP00000391456.1:p.Arg622His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1865G>A
  hgvsp: ENSP00000386509.1:p.Arg622His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1679G>A
  hgvsp: ENSP00000367772.3:p.Arg560His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1865G>A
  hgvsp: ENSP00000386543.1:p.Arg622His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.10G>A
  hgvsp: ENSP00000395692.1:p.Arg4His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1598G>A
  hgvsp: ENSP00000387095.1:p.Arg533His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1598G>A
  hgvsp: ENSP00000439626.1:p.Arg533His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1865G>A
  hgvsp: ENSP00000386909.1:p.Arg622His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.50G>A
  hgvsp: ENSP00000390618.1:p.Arg17His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1865G>A
  hgvsp: ENSP00000260648.6:p.Arg622His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1667G>A
  hgvsp: ENSP00000367781.3:p.Arg556His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1865G>A
  hgvsp: ENSP00000409480.1:p.Arg622His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1598G>A
  hgvsp: ENSP00000387241.1:p.Arg533His
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg622His
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

2-44550433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550433
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550433
    reference: chr 2
allele count: 6
allele frequency: 4.965161119478327e-5
allele num: 120842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.9C>T
  hgvsp: ENSP00000395692.1:p.Arg4Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1597C>T
  hgvsp: ENSP00000387095.1:p.Arg533Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1864C>T
  hgvsp: ENSP00000260648.6:p.Arg622Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1597C>T
  hgvsp: ENSP00000387241.1:p.Arg533Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.49C>T
  hgvsp: ENSP00000390618.1:p.Arg17Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1597C>T
  hgvsp: ENSP00000439626.1:p.Arg533Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1864C>T
  hgvsp: ENSP00000386909.1:p.Arg622Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1864C>T
  hgvsp: ENSP00000386543.1:p.Arg622Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1864C>T
  hgvsp: ENSP00000386509.1:p.Arg622Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1864C>T
  hgvsp: ENSP00000391456.1:p.Arg622Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1678C>T
  hgvsp: ENSP00000367772.3:p.Arg560Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1666C>T
  hgvsp: ENSP00000367781.3:p.Arg556Cys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1864C>T
  hgvsp: ENSP00000409480.1:p.Arg622Cys
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg622Cys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

2-44550435-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550435
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550435
    reference: chr 2
allele count: 190
allele frequency: 1.571624729101527e-3
allele num: 120894
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1595A>G
  hgvsp: ENSP00000387095.1:p.Lys532Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1595A>G
  hgvsp: ENSP00000387241.1:p.Lys532Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1862A>G
  hgvsp: ENSP00000391456.1:p.Lys621Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.47A>G
  hgvsp: ENSP00000390618.1:p.Lys16Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1664A>G
  hgvsp: ENSP00000367781.3:p.Lys555Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1862A>G
  hgvsp: ENSP00000386909.1:p.Lys621Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000395692
  ensembl transcript: ENST00000420756
  gene symbol: PREPL
  hgvsc: ENST00000420756.1:c.7A>G
  hgvsp: ENSP00000395692.1:p.Lys3Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1595A>G
  hgvsp: ENSP00000439626.1:p.Lys532Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1862A>G
  hgvsp: ENSP00000386509.1:p.Lys621Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1676A>G
  hgvsp: ENSP00000367772.3:p.Lys559Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1862A>G
  hgvsp: ENSP00000386543.1:p.Lys621Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1862A>G
  hgvsp: ENSP00000260648.6:p.Lys621Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1862A>G
  hgvsp: ENSP00000409480.1:p.Lys621Arg
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 22126
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23075
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
hgvs: p.Lys621Arg
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-44550443-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550443
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550443
    reference: chr 2
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1854C>G
  hgvsp: ENSP00000386509.1:p.Asn618Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1587C>G
  hgvsp: ENSP00000439626.1:p.Asn529Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1668C>G
  hgvsp: ENSP00000367772.3:p.Asn556Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1656C>G
  hgvsp: ENSP00000367781.3:p.Asn552Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1854C>G
  hgvsp: ENSP00000260648.6:p.Asn618Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1854C>G
  hgvsp: ENSP00000386909.1:p.Asn618Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1587C>G
  hgvsp: ENSP00000387095.1:p.Asn529Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.39C>G
  hgvsp: ENSP00000390618.1:p.Asn13Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1854C>G
  hgvsp: ENSP00000391456.1:p.Asn618Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1854C>G
  hgvsp: ENSP00000386543.1:p.Asn618Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1854C>G
  hgvsp: ENSP00000409480.1:p.Asn618Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1587C>G
  hgvsp: ENSP00000387241.1:p.Asn529Lys
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7452
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn618Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-44550447-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550447
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550447
    reference: chr 2
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1850A>G
  hgvsp: ENSP00000260648.6:p.Lys617Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1850A>G
  hgvsp: ENSP00000391456.1:p.Lys617Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1583A>G
  hgvsp: ENSP00000387095.1:p.Lys528Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1583A>G
  hgvsp: ENSP00000387241.1:p.Lys528Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1850A>G
  hgvsp: ENSP00000386909.1:p.Lys617Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1850A>G
  hgvsp: ENSP00000386509.1:p.Lys617Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1583A>G
  hgvsp: ENSP00000439626.1:p.Lys528Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1850A>G
  hgvsp: ENSP00000409480.1:p.Lys617Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.35A>G
  hgvsp: ENSP00000390618.1:p.Lys12Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1664A>G
  hgvsp: ENSP00000367772.3:p.Lys555Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1652A>G
  hgvsp: ENSP00000367781.3:p.Lys551Arg
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1850A>G
  hgvsp: ENSP00000386543.1:p.Lys617Arg
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys617Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-44550459-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550459
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550459
    reference: chr 2
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1652A>T
  hgvsp: ENSP00000367772.3:p.Asp551Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1838A>T
  hgvsp: ENSP00000409480.1:p.Asp613Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1838A>T
  hgvsp: ENSP00000386509.1:p.Asp613Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.23A>T
  hgvsp: ENSP00000390618.1:p.Asp8Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1838A>T
  hgvsp: ENSP00000391456.1:p.Asp613Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1571A>T
  hgvsp: ENSP00000387095.1:p.Asp524Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1838A>T
  hgvsp: ENSP00000386909.1:p.Asp613Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1571A>T
  hgvsp: ENSP00000439626.1:p.Asp524Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1640A>T
  hgvsp: ENSP00000367781.3:p.Asp547Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1838A>T
  hgvsp: ENSP00000260648.6:p.Asp613Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1571A>T
  hgvsp: ENSP00000387241.1:p.Asp524Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1838A>T
  hgvsp: ENSP00000386543.1:p.Asp613Val
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp613Val
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-44550468-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550468
    reference: chr 2
allele count: 2
allele frequency: 1.651473114017704e-5
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.14C>T
  hgvsp: ENSP00000390618.1:p.Pro5Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1562C>T
  hgvsp: ENSP00000387241.1:p.Pro521Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1562C>T
  hgvsp: ENSP00000387095.1:p.Pro521Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1829C>T
  hgvsp: ENSP00000409480.1:p.Pro610Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1643C>T
  hgvsp: ENSP00000367772.3:p.Pro548Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1829C>T
  hgvsp: ENSP00000260648.6:p.Pro610Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1829C>T
  hgvsp: ENSP00000391456.1:p.Pro610Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1829C>T
  hgvsp: ENSP00000386909.1:p.Pro610Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1829C>T
  hgvsp: ENSP00000386509.1:p.Pro610Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1562C>T
  hgvsp: ENSP00000439626.1:p.Pro521Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1631C>T
  hgvsp: ENSP00000367781.3:p.Pro544Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1829C>T
  hgvsp: ENSP00000386543.1:p.Pro610Leu
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro610Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD

2-44550472-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550472
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550472
    reference: chr 2
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1825A>C
  hgvsp: ENSP00000386509.1:p.Asn609His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1825A>C
  hgvsp: ENSP00000260648.6:p.Asn609His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1558A>C
  hgvsp: ENSP00000387241.1:p.Asn520His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1639A>C
  hgvsp: ENSP00000367772.3:p.Asn547His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.10A>C
  hgvsp: ENSP00000390618.1:p.Asn4His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1825A>C
  hgvsp: ENSP00000386909.1:p.Asn609His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1825A>C
  hgvsp: ENSP00000409480.1:p.Asn609His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1558A>C
  hgvsp: ENSP00000439626.1:p.Asn520His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1825A>C
  hgvsp: ENSP00000391456.1:p.Asn609His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1558A>C
  hgvsp: ENSP00000387095.1:p.Asn520His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1825A>C
  hgvsp: ENSP00000386543.1:p.Asn609His
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1627A>C
  hgvsp: ENSP00000367781.3:p.Asn543His
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn609His
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-44550474-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550474
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550474
    reference: chr 2
allele count: 2
allele frequency: 1.65128222064433e-5
allele num: 121118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1823G>C
  hgvsp: ENSP00000260648.6:p.Gly608Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1823G>C
  hgvsp: ENSP00000386509.1:p.Gly608Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1823G>C
  hgvsp: ENSP00000386543.1:p.Gly608Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1823G>C
  hgvsp: ENSP00000409480.1:p.Gly608Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1637G>C
  hgvsp: ENSP00000367772.3:p.Gly546Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1556G>C
  hgvsp: ENSP00000439626.1:p.Gly519Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1625G>C
  hgvsp: ENSP00000367781.3:p.Gly542Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000390618
  ensembl transcript: ENST00000444696
  gene symbol: PREPL
  hgvsc: ENST00000444696.1:c.8G>C
  hgvsp: ENSP00000390618.1:p.Gly3Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1556G>C
  hgvsp: ENSP00000387095.1:p.Gly519Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1823G>C
  hgvsp: ENSP00000386909.1:p.Gly608Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1823G>C
  hgvsp: ENSP00000391456.1:p.Gly608Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1556G>C
  hgvsp: ENSP00000387241.1:p.Gly519Ala
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly608Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-44550485-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550485
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550486
    reference: chr 2
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1811dupT
  hgvsp: ENSP00000391456.1:p.Leu604PhefsTer10
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1625dupT
  hgvsp: ENSP00000367772.3:p.Leu542PhefsTer10
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1613dupT
  hgvsp: ENSP00000367781.3:p.Leu538PhefsTer10
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1544dupT
  hgvsp: ENSP00000439626.1:p.Leu515PhefsTer10
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1811dupT
  hgvsp: ENSP00000386509.1:p.Leu604PhefsTer10
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1544dupT
  hgvsp: ENSP00000387241.1:p.Leu515PhefsTer10
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1811dupT
  hgvsp: ENSP00000409480.1:p.Leu604PhefsTer10
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1544dupT
  hgvsp: ENSP00000387095.1:p.Leu515PhefsTer10
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1811dupT
  hgvsp: ENSP00000260648.6:p.Leu604PhefsTer10
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1811dupT
  hgvsp: ENSP00000386909.1:p.Leu604PhefsTer10
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1811dupT
  hgvsp: ENSP00000386543.1:p.Leu604PhefsTer10
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu604PhefsTer10
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-44550487-ATTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550487
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550484
    reference: chr 2
allele count: 2
allele frequency: 1.651418568550385e-5
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1540_1542delGAA
  hgvsp: ENSP00000387095.1:p.Glu514del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1807_1809delGAA
  hgvsp: ENSP00000409480.1:p.Glu603del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1609_1611delGAA
  hgvsp: ENSP00000367781.3:p.Glu537del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1807_1809delGAA
  hgvsp: ENSP00000386909.1:p.Glu603del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1807_1809delGAA
  hgvsp: ENSP00000386509.1:p.Glu603del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1807_1809delGAA
  hgvsp: ENSP00000260648.6:p.Glu603del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1621_1623delGAA
  hgvsp: ENSP00000367772.3:p.Glu541del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1540_1542delGAA
  hgvsp: ENSP00000439626.1:p.Glu514del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1540_1542delGAA
  hgvsp: ENSP00000387241.1:p.Glu514del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1807_1809delGAA
  hgvsp: ENSP00000386543.1:p.Glu603del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1807_1809delGAA
  hgvsp: ENSP00000391456.1:p.Glu603del
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu603del
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: ATTC
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

2-44550488-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550488
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550488
    reference: chr 2
allele count: 18
allele frequency: 1.486325802615933e-4
allele num: 121104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1542A>C
  hgvsp: ENSP00000439626.1:p.Glu514Asp
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1809A>C
  hgvsp: ENSP00000386509.1:p.Glu603Asp
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1809A>C
  hgvsp: ENSP00000391456.1:p.Glu603Asp
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1809A>C
  hgvsp: ENSP00000409480.1:p.Glu603Asp
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1623A>C
  hgvsp: ENSP00000367772.3:p.Glu541Asp
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1809A>C
  hgvsp: ENSP00000386909.1:p.Glu603Asp
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1611A>C
  hgvsp: ENSP00000367781.3:p.Glu537Asp
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1542A>C
  hgvsp: ENSP00000387095.1:p.Glu514Asp
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1809A>C
  hgvsp: ENSP00000386543.1:p.Glu603Asp
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1542A>C
  hgvsp: ENSP00000387241.1:p.Glu514Asp
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1809A>C
  hgvsp: ENSP00000260648.6:p.Glu603Asp
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Glu603Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

2-44550493-CTAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550493
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550490
    reference: chr 2
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1615_1617delTTA
  hgvsp: ENSP00000367772.3:p.Leu539del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1801_1803delTTA
  hgvsp: ENSP00000386543.1:p.Leu601del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1534_1536delTTA
  hgvsp: ENSP00000439626.1:p.Leu512del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1801_1803delTTA
  hgvsp: ENSP00000391456.1:p.Leu601del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1801_1803delTTA
  hgvsp: ENSP00000386509.1:p.Leu601del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1801_1803delTTA
  hgvsp: ENSP00000386909.1:p.Leu601del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1801_1803delTTA
  hgvsp: ENSP00000409480.1:p.Leu601del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1603_1605delTTA
  hgvsp: ENSP00000367781.3:p.Leu535del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1801_1803delTTA
  hgvsp: ENSP00000260648.6:p.Leu601del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1534_1536delTTA
  hgvsp: ENSP00000387095.1:p.Leu512del
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1534_1536delTTA
  hgvsp: ENSP00000387241.1:p.Leu512del
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu601del
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: CTAA
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/2-44550495-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550495
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550495
    reference: chr 2
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1802T>G
  hgvsp: ENSP00000409480.1:p.Leu601Ter
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1535T>G
  hgvsp: ENSP00000387095.1:p.Leu512Ter
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1604T>G
  hgvsp: ENSP00000367781.3:p.Leu535Ter
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1535T>G
  hgvsp: ENSP00000387241.1:p.Leu512Ter
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1535T>G
  hgvsp: ENSP00000439626.1:p.Leu512Ter
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1802T>G
  hgvsp: ENSP00000386543.1:p.Leu601Ter
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1802T>G
  hgvsp: ENSP00000260648.6:p.Leu601Ter
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1802T>G
  hgvsp: ENSP00000386509.1:p.Leu601Ter
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1802T>G
  hgvsp: ENSP00000386909.1:p.Leu601Ter
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1802T>G
  hgvsp: ENSP00000391456.1:p.Leu601Ter
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1616T>G
  hgvsp: ENSP00000367772.3:p.Leu539Ter
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu601Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-44550509-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550509
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550509
    reference: chr 2
allele count: 2
allele frequency: 1.651936896010573e-5
allele num: 121070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1788A>G
  hgvsp: ENST00000425263.1:c.1788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1788A>G
  hgvsp: ENST00000426481.1:c.1788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1788A>G
  hgvsp: ENST00000410081.1:c.1788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1590A>G
  hgvsp: ENST00000378520.3:c.1590A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1788A>G
  hgvsp: ENST00000409272.1:c.1788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1602A>G
  hgvsp: ENST00000378511.3:c.1602A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1521A>G
  hgvsp: ENST00000409957.1:c.1521A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1521A>G
  hgvsp: ENST00000409411.1:c.1521A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1788A>G
  hgvsp: ENST00000260648.6:c.1788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1521A>G
  hgvsp: ENST00000541738.1:c.1521A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1788A>G
  hgvsp: ENST00000409936.1:c.1788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr596Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum

2-44550510-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550510
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550510
    reference: chr 2
allele count: 44
allele frequency: 3.634561374525029e-4
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1787C>A
  hgvsp: ENSP00000260648.6:p.Thr596Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1787C>A
  hgvsp: ENSP00000409480.1:p.Thr596Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1787C>A
  hgvsp: ENSP00000391456.1:p.Thr596Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1589C>A
  hgvsp: ENSP00000367781.3:p.Thr530Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1787C>A
  hgvsp: ENSP00000386509.1:p.Thr596Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1520C>A
  hgvsp: ENSP00000387241.1:p.Thr507Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1520C>A
  hgvsp: ENSP00000387095.1:p.Thr507Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1787C>A
  hgvsp: ENSP00000386543.1:p.Thr596Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1520C>A
  hgvsp: ENSP00000439626.1:p.Thr507Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1787C>A
  hgvsp: ENSP00000386909.1:p.Thr596Lys
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1601C>A
  hgvsp: ENSP00000367772.3:p.Thr534Lys
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22460
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22867
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr596Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

2-44550513-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550513
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550513
    reference: chr 2
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1517C>T
  hgvsp: ENSP00000387241.1:p.Thr506Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1784C>T
  hgvsp: ENSP00000386509.1:p.Thr595Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1784C>T
  hgvsp: ENSP00000391456.1:p.Thr595Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1586C>T
  hgvsp: ENSP00000367781.3:p.Thr529Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1598C>T
  hgvsp: ENSP00000367772.3:p.Thr533Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1517C>T
  hgvsp: ENSP00000439626.1:p.Thr506Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1517C>T
  hgvsp: ENSP00000387095.1:p.Thr506Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1784C>T
  hgvsp: ENSP00000260648.6:p.Thr595Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1784C>T
  hgvsp: ENSP00000386909.1:p.Thr595Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1784C>T
  hgvsp: ENSP00000409480.1:p.Thr595Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1784C>T
  hgvsp: ENSP00000386543.1:p.Thr595Ile
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr595Ile
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff

2-44550515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550515
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550515
    reference: chr 2
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1515C>T
  hgvsp: ENST00000541738.1:c.1515C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1515C>T
  hgvsp: ENST00000409411.1:c.1515C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1782C>T
  hgvsp: ENST00000410081.1:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1596C>T
  hgvsp: ENST00000378511.3:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1515C>T
  hgvsp: ENST00000409957.1:c.1515C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1782C>T
  hgvsp: ENST00000409272.1:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1782C>T
  hgvsp: ENST00000426481.1:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1782C>T
  hgvsp: ENST00000425263.1:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1584C>T
  hgvsp: ENST00000378520.3:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1782C>T
  hgvsp: ENST00000260648.6:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1782C>T
  hgvsp: ENST00000409936.1:c.1782C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp594Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-44550516-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550516
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550516
    reference: chr 2
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1514A>T
  hgvsp: ENSP00000387241.1:p.Asp505Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1595A>T
  hgvsp: ENSP00000367772.3:p.Asp532Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1781A>T
  hgvsp: ENSP00000386509.1:p.Asp594Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1781A>T
  hgvsp: ENSP00000260648.6:p.Asp594Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1781A>T
  hgvsp: ENSP00000386909.1:p.Asp594Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1781A>T
  hgvsp: ENSP00000409480.1:p.Asp594Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1781A>T
  hgvsp: ENSP00000386543.1:p.Asp594Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1514A>T
  hgvsp: ENSP00000439626.1:p.Asp505Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1583A>T
  hgvsp: ENSP00000367781.3:p.Asp528Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1781A>T
  hgvsp: ENSP00000391456.1:p.Asp594Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1514A>T
  hgvsp: ENSP00000387095.1:p.Asp505Val
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp594Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-44550517-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550517
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550517
    reference: chr 2
allele count: 2
allele frequency: 1.652537471287161e-5
allele num: 121026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1780G>A
  hgvsp: ENSP00000386909.1:p.Asp594Asn
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1780G>A
  hgvsp: ENSP00000409480.1:p.Asp594Asn
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1594G>A
  hgvsp: ENSP00000367772.3:p.Asp532Asn
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1513G>A
  hgvsp: ENSP00000439626.1:p.Asp505Asn
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1513G>A
  hgvsp: ENSP00000387241.1:p.Asp505Asn
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1780G>A
  hgvsp: ENSP00000386543.1:p.Asp594Asn
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1582G>A
  hgvsp: ENSP00000367781.3:p.Asp528Asn
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1780G>A
  hgvsp: ENSP00000260648.6:p.Asp594Asn
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1513G>A
  hgvsp: ENSP00000387095.1:p.Asp505Asn
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1780G>A
  hgvsp: ENSP00000386509.1:p.Asp594Asn
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1780G>A
  hgvsp: ENSP00000391456.1:p.Asp594Asn
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp594Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-44550520-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550520
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550520
    reference: chr 2
allele count: 3
allele frequency: 2.479297862845242e-5
allele num: 121002
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1777A>T
  hgvsp: ENSP00000386543.1:p.Met593Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1777A>T
  hgvsp: ENSP00000409480.1:p.Met593Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1777A>T
  hgvsp: ENSP00000386909.1:p.Met593Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1777A>T
  hgvsp: ENSP00000386509.1:p.Met593Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1510A>T
  hgvsp: ENSP00000439626.1:p.Met504Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1777A>T
  hgvsp: ENSP00000391456.1:p.Met593Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1777A>T
  hgvsp: ENSP00000260648.6:p.Met593Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1591A>T
  hgvsp: ENSP00000367772.3:p.Met531Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1510A>T
  hgvsp: ENSP00000387095.1:p.Met504Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1579A>T
  hgvsp: ENSP00000367781.3:p.Met527Leu
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1510A>T
  hgvsp: ENSP00000387241.1:p.Met504Leu
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met593Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

2-44550521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550521
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550521
    reference: chr 2
allele count: 3
allele frequency: 2.479707725116133e-5
allele num: 120982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1578G>A
  hgvsp: ENSP00000367781.3:p.Met526Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1776G>A
  hgvsp: ENSP00000260648.6:p.Met592Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1776G>A
  hgvsp: ENSP00000391456.1:p.Met592Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1509G>A
  hgvsp: ENSP00000439626.1:p.Met503Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1590G>A
  hgvsp: ENSP00000367772.3:p.Met530Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1509G>A
  hgvsp: ENSP00000387241.1:p.Met503Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1776G>A
  hgvsp: ENSP00000386543.1:p.Met592Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1776G>A
  hgvsp: ENSP00000386509.1:p.Met592Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1776G>A
  hgvsp: ENSP00000386909.1:p.Met592Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1776G>A
  hgvsp: ENSP00000409480.1:p.Met592Ile
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1509G>A
  hgvsp: ENSP00000387095.1:p.Met503Ile
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met592Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-44550523-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550523
    reference: chr 2
allele count: 2
allele frequency: 1.653603201375798e-5
allele num: 120948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1774A>G
  hgvsp: ENSP00000386909.1:p.Met592Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1774A>G
  hgvsp: ENSP00000409480.1:p.Met592Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1774A>G
  hgvsp: ENSP00000391456.1:p.Met592Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1588A>G
  hgvsp: ENSP00000367772.3:p.Met530Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1507A>G
  hgvsp: ENSP00000387095.1:p.Met503Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1774A>G
  hgvsp: ENSP00000260648.6:p.Met592Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1507A>G
  hgvsp: ENSP00000439626.1:p.Met503Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1774A>G
  hgvsp: ENSP00000386509.1:p.Met592Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1774A>G
  hgvsp: ENSP00000386543.1:p.Met592Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1507A>G
  hgvsp: ENSP00000387241.1:p.Met503Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1576A>G
  hgvsp: ENSP00000367781.3:p.Met526Val
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met592Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

2-44550524-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550524
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550524
    reference: chr 2
allele count: 1
allele frequency: 8.269656974628692e-6
allele num: 120924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1575C>T
  hgvsp: ENST00000378520.3:c.1575C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1506C>T
  hgvsp: ENST00000409957.1:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1587C>T
  hgvsp: ENST00000378511.3:c.1587C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1773C>T
  hgvsp: ENST00000410081.1:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1506C>T
  hgvsp: ENST00000541738.1:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1773C>T
  hgvsp: ENST00000426481.1:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1773C>T
  hgvsp: ENST00000425263.1:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1773C>T
  hgvsp: ENST00000409936.1:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1773C>T
  hgvsp: ENST00000260648.6:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1773C>T
  hgvsp: ENST00000409272.1:c.1773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1506C>T
  hgvsp: ENST00000409411.1:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr591Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-44550526-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550526
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550526
    reference: chr 2
allele count: 1
allele frequency: 8.272393368849475e-6
allele num: 120884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1504A>G
  hgvsp: ENSP00000387095.1:p.Thr502Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1771A>G
  hgvsp: ENSP00000386543.1:p.Thr591Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1771A>G
  hgvsp: ENSP00000386509.1:p.Thr591Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1585A>G
  hgvsp: ENSP00000367772.3:p.Thr529Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1504A>G
  hgvsp: ENSP00000439626.1:p.Thr502Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1771A>G
  hgvsp: ENSP00000391456.1:p.Thr591Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1771A>G
  hgvsp: ENSP00000386909.1:p.Thr591Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1573A>G
  hgvsp: ENSP00000367781.3:p.Thr525Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1771A>G
  hgvsp: ENSP00000260648.6:p.Thr591Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1504A>G
  hgvsp: ENSP00000387241.1:p.Thr502Ala
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1771A>G
  hgvsp: ENSP00000409480.1:p.Thr591Ala
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr591Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

2-44550527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550527
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550527
    reference: chr 2
allele count: 14
allele frequency: 1.158537594544943e-4
allele num: 120842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1770C>T
  hgvsp: ENST00000426481.1:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1503C>T
  hgvsp: ENST00000541738.1:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1770C>T
  hgvsp: ENST00000410081.1:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1572C>T
  hgvsp: ENST00000378520.3:c.1572C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1503C>T
  hgvsp: ENST00000409411.1:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1770C>T
  hgvsp: ENST00000409272.1:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1503C>T
  hgvsp: ENST00000409957.1:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1770C>T
  hgvsp: ENST00000260648.6:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1770C>T
  hgvsp: ENST00000425263.1:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1584C>T
  hgvsp: ENST00000378511.3:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1770C>T
  hgvsp: ENST00000409936.1:c.1770C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22419
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn590Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

2-44550528-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550528
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550528
    reference: chr 2
allele count: 370
allele frequency: 3.062356193408485e-3
allele num: 120822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1502A>G
  hgvsp: ENSP00000387095.1:p.Asn501Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1583A>G
  hgvsp: ENSP00000367772.3:p.Asn528Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1571A>G
  hgvsp: ENSP00000367781.3:p.Asn524Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1769A>G
  hgvsp: ENSP00000409480.1:p.Asn590Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1769A>G
  hgvsp: ENSP00000386543.1:p.Asn590Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1769A>G
  hgvsp: ENSP00000386909.1:p.Asn590Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1769A>G
  hgvsp: ENSP00000260648.6:p.Asn590Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1769A>G
  hgvsp: ENSP00000391456.1:p.Asn590Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1769A>G
  hgvsp: ENSP00000386509.1:p.Asn590Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1502A>G
  hgvsp: ENSP00000387241.1:p.Asn501Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1502A>G
  hgvsp: ENSP00000439626.1:p.Asn501Ser
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22306
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 22503
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
hgvs: p.Asn590Ser
num of homozygotes: 5
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

2-44550530-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550530
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550530
    reference: chr 2
allele count: 2
allele frequency: 1.656698861847882e-5
allele num: 120722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1767C>G
  hgvsp: ENST00000410081.1:c.1767C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1569C>G
  hgvsp: ENST00000378520.3:c.1569C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1500C>G
  hgvsp: ENST00000409957.1:c.1500C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1767C>G
  hgvsp: ENST00000409272.1:c.1767C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1767C>G
  hgvsp: ENST00000260648.6:c.1767C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1500C>G
  hgvsp: ENST00000409411.1:c.1500C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1767C>G
  hgvsp: ENST00000425263.1:c.1767C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1581C>G
  hgvsp: ENST00000378511.3:c.1581C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1767C>G
  hgvsp: ENST00000409936.1:c.1767C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1767C>G
  hgvsp: ENST00000426481.1:c.1767C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1500C>G
  hgvsp: ENST00000541738.1:c.1500C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu589Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-44550547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550547
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550547
    reference: chr 2
allele count: 3
allele frequency: 2.510124167475484e-5
allele num: 119516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1483C>T
  hgvsp: ENSP00000387241.1:p.Pro495Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1750C>T
  hgvsp: ENSP00000386543.1:p.Pro584Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1750C>T
  hgvsp: ENSP00000386509.1:p.Pro584Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1483C>T
  hgvsp: ENSP00000387095.1:p.Pro495Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1750C>T
  hgvsp: ENSP00000386909.1:p.Pro584Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1483C>T
  hgvsp: ENSP00000439626.1:p.Pro495Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1750C>T
  hgvsp: ENSP00000260648.6:p.Pro584Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1552C>T
  hgvsp: ENSP00000367781.3:p.Pro518Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1564C>T
  hgvsp: ENSP00000367772.3:p.Pro522Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1750C>T
  hgvsp: ENSP00000391456.1:p.Pro584Ser
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1750C>T
  hgvsp: ENSP00000409480.1:p.Pro584Ser
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20646
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro584Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-44550549-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550549
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550549
    reference: chr 2
allele count: 1
allele frequency: 8.38208915190022e-6
allele num: 119302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1481C>T
  hgvsp: ENSP00000387241.1:p.Ala494Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1748C>T
  hgvsp: ENSP00000409480.1:p.Ala583Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1748C>T
  hgvsp: ENSP00000386543.1:p.Ala583Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1748C>T
  hgvsp: ENSP00000386909.1:p.Ala583Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1481C>T
  hgvsp: ENSP00000439626.1:p.Ala494Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1481C>T
  hgvsp: ENSP00000387095.1:p.Ala494Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1562C>T
  hgvsp: ENSP00000367772.3:p.Ala521Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1748C>T
  hgvsp: ENSP00000391456.1:p.Ala583Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1550C>T
  hgvsp: ENSP00000367781.3:p.Ala517Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1748C>T
  hgvsp: ENSP00000386509.1:p.Ala583Val
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1748C>T
  hgvsp: ENSP00000260648.6:p.Ala583Val
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22161
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala583Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-44550552-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 44550552
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 44550553
    reference: chr 2
allele count: 7
allele frequency: 5.955014121890632e-5
allele num: 117548
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387095
  ensembl transcript: ENST00000409411
  gene symbol: PREPL
  hgvsc: ENST00000409411.1:c.1480-3dupT
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386909
  ensembl transcript: ENST00000409272
  gene symbol: PREPL
  hgvsc: ENST00000409272.1:c.1747-3dupT
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367781
  ensembl transcript: ENST00000378520
  gene symbol: PREPL
  hgvsc: ENST00000378520.3:c.1549-3dupT
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000260648
  ensembl transcript: ENST00000260648
  gene symbol: PREPL
  hgvsc: ENST00000260648.6:c.1747-3dupT
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386543
  ensembl transcript: ENST00000409936
  gene symbol: PREPL
  hgvsc: ENST00000409936.1:c.1747-3dupT
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000386509
  ensembl transcript: ENST00000410081
  gene symbol: PREPL
  hgvsc: ENST00000410081.1:c.1747-3dupT
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000439626
  ensembl transcript: ENST00000541738
  gene symbol: PREPL
  hgvsc: ENST00000541738.1:c.1480-3dupT
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000367772
  ensembl transcript: ENST00000378511
  gene symbol: PREPL
  hgvsc: ENST00000378511.3:c.1561-3dupT
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000409480
  ensembl transcript: ENST00000426481
  gene symbol: PREPL
  hgvsc: ENST00000426481.1:c.1747-3dupT
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000387241
  ensembl transcript: ENST00000409957
  gene symbol: PREPL
  hgvsc: ENST00000409957.1:c.1480-3dupT
  variant of: http://identifiers.org/hgnc/30228
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138078
  ensembl protein: ENSP00000391456
  ensembl transcript: ENST00000425263
  gene symbol: PREPL
  hgvsc: ENST00000425263.1:c.1747-3dupT
  variant of: http://identifiers.org/hgnc/30228
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18725
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21868
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1747-3dupT
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 5768
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4333
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5985
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.154603643525357e-5
allele num: 16248
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 3.817842e6

VQSLOD
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SIO_000300: -8.491e-1

BaseQRankSum
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SIO_000300: -2.838e0

ReadPosRankSum
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.26e-1

QD
type: SiteQuality
SIO_000300: 1.718e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 906
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.17283950617284e-5
allele num: 16200
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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SIO_000300: -7.78e-1

QD
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MQ
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

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

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

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.025185274447189e-5
allele num: 66388
num of homozygotes: 0

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

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

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

ReadPosRankSum
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SIO_000300: -2.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 5.906e1

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.158e0

BaseQRankSum
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SIO_000300: -3.134e0

MQRankSum
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QD
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SIO_000300: 1.025e1

DP
type: SiteQuality
SIO_000300: 3.809507e6

VQSLOD
type: SiteQuality
SIO_000300: -3.4e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.523658735185018e-5
allele num: 66318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10346
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
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FS
type: SiteQuality
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QD
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MQ
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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DP
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GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66318
num of homozygotes: 0

East Asian
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allele count: 0
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African
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South Asian
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allele num: 15898
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Latino
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Other
type: Population
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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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele 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

Other
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allele num: 900
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.020600495378481e-5
allele num: 66212
num of homozygotes: 0

DP
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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QD
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MQ
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ClippingRankSum
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GenotypeDepth
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variant carriers: 19

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

South Asian
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allele frequency: 2.625360987135731e-4
allele num: 15236
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
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allele count: 57
allele frequency: 4.941054091539529e-3
allele num: 11536
num of homozygotes: 1

European (Non-Finnish)
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allele count: 90
allele frequency: 1.363677687202642e-3
allele num: 65998
num of homozygotes: 0

African
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allele count: 166
allele frequency: 1.613216715257532e-2
allele num: 10290
num of homozygotes: 1

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

Other
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allele count: 3
allele frequency: 3.36322869955157e-3
allele num: 892
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QD
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
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ReadPosRankSum
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SIO_000300: 5.76e-1

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

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

African
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allele count: 2
allele frequency: 1.948178453146308e-4
allele num: 10266
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.64982045484772e-5
allele num: 15038
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.034164694459615e-5
allele num: 65916
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

QD
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SIO_000300: 1.276e1

MQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.979e1

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -4.0e-4

FS
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SIO_000300: 6.37e-1

BaseQRankSum
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SIO_000300: 1.03e0

DP
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SIO_000300: 3.753446e6

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517220452131695e-5
allele num: 65910
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 886
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 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: 8612
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.72e-1

DP
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SIO_000300: 3.751516e6

InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -1.712e0

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 7.23e-1

FS
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SIO_000300: 1.85e0

QD
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GenotypeDepth
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variant carriers: 8

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 84
allele frequency: 8.198321296115557e-3
allele num: 10246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.428879375778e-4
allele num: 65874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14968
num of homozygotes: 0

Latino
type: Population
allele count: 32
allele frequency: 2.776813606386671e-3
allele num: 11524
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.409090909090909e-3
allele num: 880
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 4.23e0

InbreedingCoeff
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QD
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DP
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FS
type: SiteQuality
SIO_000300: 6.7e-1

ReadPosRankSum
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SIO_000300: 3.29e-1

MQ
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SIO_000300: 5.976e1

BaseQRankSum
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SIO_000300: -3.316e0

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
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
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65606
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.969612489545581e-5
allele num: 14348
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DP
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SIO_000300: 3.724834e6

FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.961e1

VQSLOD
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QD
type: SiteQuality
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14000
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65476
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.922603691208574e-5
allele num: 10078
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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FS
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SIO_000300: 8.78e-1

VQSLOD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 801
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 7.171543316121629e-5
allele num: 13944
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 8
allele frequency: 1.222680727495033e-4
allele num: 65430
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VQSLOD
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FS
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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African
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Other
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European (Finnish)
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Latino
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MQ
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SIO_000300: 5.936e1

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

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

South Asian
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Other
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Latino
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African
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European (Non-Finnish)
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allele num: 63486
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East Asian
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 64044
num of homozygotes: 0

South Asian
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East Asian
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European (Finnish)
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Latino
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African
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Other
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 9
allele frequency: 1.067362428842505e-3
allele num: 8432
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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BaseQRankSum
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SIO_000300: 1.28e0

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

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

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

African
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European (Finnish)
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South Asian
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Latino
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Other
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European (Non-Finnish)
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MQ
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DP
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InbreedingCoeff
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FS
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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South Asian
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East Asian
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Latino
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allele num: 11408
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African
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European (Non-Finnish)
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allele frequency: 1.539171925504079e-5
allele num: 64970
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

DP
type: SiteQuality
SIO_000300: 1.726779e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

QD
type: SiteQuality
SIO_000300: 1.66e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 597
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variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.755034144633164e-5
allele num: 11422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.948178453146308e-4
allele num: 10266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 7.886e0

QD
type: SiteQuality
SIO_000300: 1.201e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

DP
type: SiteQuality
SIO_000300: 1.731472e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 1886
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GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.829627309740057e-5
allele num: 12772
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65104
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 2.127e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 1.733432e6

QD
type: SiteQuality
SIO_000300: 1.673e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.77e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 619
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65192
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.723842862699339e-5
allele num: 10284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13024
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.836e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
SIO_000300: -9.206e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

QD
type: SiteQuality
SIO_000300: 7.29e0

DP
type: SiteQuality
SIO_000300: 1.736873e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.17e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13264
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.914885347842985e-4
allele num: 10292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530924678505817e-5
allele num: 65320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.740626e6

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 1.575e0

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.396e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

MQ
type: SiteQuality
SIO_000300: 5.99e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 121
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530643482520051e-5
allele num: 65332
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.741797e6

FS
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.068376068376068e-3
allele num: 10296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13396
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65364
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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QD
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MQRankSum
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DP
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InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

BaseQRankSum
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SIO_000300: -4.044e0

FS
type: SiteQuality
SIO_000300: 2.16e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 238
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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: 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: 1.16144018583043e-4
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.044083526682135e-3
allele num: 8620
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African
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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Other
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DP
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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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

Latino
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Other
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African
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allele frequency: 0.0e0
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European (Finnish)
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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FS
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QD
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65850
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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Other
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Latino
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European (Finnish)
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South Asian
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MQ
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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QD
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Latino
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ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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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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European (Finnish)
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Other
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South Asian
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European (Non-Finnish)
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African
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Latino
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East Asian
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11502
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.015408738654524e-5
allele num: 66326
num of homozygotes: 0

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

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

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

InbreedingCoeff
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SIO_000300: 3.0e-4

FS
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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DP
type: SiteQuality
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

East Asian
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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: 898
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507704369327262e-5
allele num: 66326
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 2.834e0

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

ClippingRankSum
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SIO_000300: -4.5e-1

BaseQRankSum
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SIO_000300: -1.717e0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

DP
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SIO_000300: 1.786417e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.126700159294204e-5
allele num: 16322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.504845602841149e-4
allele num: 66452
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.925298421255295e-4
allele num: 10388
num of homozygotes: 1

East Asian
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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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InbreedingCoeff
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SIO_000300: 6.14e-2

MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
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SIO_000300: 1.19e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -5.6e-2

DP
type: SiteQuality
SIO_000300: 1.792762e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.225340031858841e-4
allele num: 16322
num of homozygotes: 0

African
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allele count: 1
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allele num: 10388
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
type: SiteQuality
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DP
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SIO_000300: 1.792762e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
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East Asian
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South Asian
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allele count: 5
allele frequency: 3.059226627508566e-4
allele num: 16344
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
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QD
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MQ
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SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

MQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1870
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 39
allele frequency: 3.753609239653513e-3
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.444091409018697e-4
allele num: 16366
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.31858407079646e-3
allele num: 904
num of homozygotes: 0

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

Latino
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allele count: 54
allele frequency: 4.694019471488178e-3
allele num: 11504
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
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European (Non-Finnish)
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allele count: 90
allele frequency: 1.353546291283162e-3
allele num: 66492
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

VQSLOD
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InbreedingCoeff
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DP
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QD
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MQRankSum
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SIO_000300: 9.1e-2

MQ
type: SiteQuality
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 3.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 42
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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Latino
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European (Finnish)
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South Asian
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African
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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FS
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6592
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: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503940323647958e-5
allele num: 66492
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.791863e6

MQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

ClippingRankSum
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SIO_000300: -1.184e0

BaseQRankSum
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SIO_000300: -1.979e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.191e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

GenotypeDepth
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variant carriers: 4

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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bin: 9.75e1
variant carriers: 14

GenotypeQuality
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GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.106023226427583e-4
allele num: 66476
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.79178e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
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SIO_000300: -2.778e0

QD
type: SiteQuality
SIO_000300: 1.266e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeDepth
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variant carriers: 32

GenotypeDepth
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variant carriers: 31

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5027
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variant carriers: 365

GenotypeQuality
all individuals: 1132
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.053106664660749e-4
allele num: 66470
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.394700139470014e-3
allele num: 11472
num of homozygotes: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 347
allele frequency: 3.340392760877936e-2
allele num: 10388
num of homozygotes: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.86e0

QD
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SIO_000300: 1.551e1

BaseQRankSum
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SIO_000300: 3.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.37e-2

DP
type: SiteQuality
SIO_000300: 1.80117e6

GenotypeDepth
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bin: 9.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 108
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GenotypeQuality
all individuals: 69
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GenotypeQuality
all individuals: 600
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GenotypeQuality
all individuals: 469
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variant carriers: 0

GenotypeQuality
all individuals: 98
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GenotypeQuality
all individuals: 4721
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010234798314269e-5
allele num: 66440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.784739e6

VQSLOD
type: SiteQuality
SIO_000300: 7.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

FS
type: SiteQuality
SIO_000300: 5.115e0

QD
type: SiteQuality
SIO_000300: 1.28e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeDepth
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variant carriers: 0

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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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 596
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 257
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GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.552628384120432e-5
allele num: 65896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

DP
type: SiteQuality
SIO_000300: 1.759731e6

FS
type: SiteQuality
SIO_000300: 1.1483e1

VQSLOD
type: SiteQuality
SIO_000300: -1.084e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.919e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
all individuals: 923
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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
all individuals: 6741
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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
all individuals: 1741
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 161
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GenotypeQuality
all individuals: 39181
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.301991429291656e-5
allele num: 15868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65792
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

DP
type: SiteQuality
SIO_000300: 1.755691e6

FS
type: SiteQuality
SIO_000300: 1.744e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.424e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.119e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.01e-1

QD
type: SiteQuality
SIO_000300: 3.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1