6-32123461-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123461
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123461
    reference: chr 6
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.554-84A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.184-4A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000465047
  gene symbol: PPT2
  hgvsc: ENST00000465047.1:n.167-4A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.184-84A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.338-4A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.184-4A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.287-4A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.338-4A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.469-4A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.338-4A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.338-4A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.338-4A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.356-4A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.338-4A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.338-4A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.-32-4A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.184-4A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.338-4A>G
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.338-4A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-32123466-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123466
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123466
    reference: chr 6
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.339G>T
  hgvsp: ENST00000428388.2:c.339G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.339G>T
  hgvsp: ENST00000414204.1:c.339G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.185G>T
  hgvsp: ENSP00000395456.2:p.Gly62Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.184-79G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.339G>T
  hgvsp: ENST00000445576.2:c.339G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.185G>T
  hgvsp: ENSP00000463570.1:p.Gly62Val
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.339G>T
  hgvsp: ENST00000375143.2:c.339G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.357G>T
  hgvsp: ENST00000361568.2:c.357G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.288G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.339G>T
  hgvsp: ENST00000422437.1:c.339G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.185G>T
  hgvsp: ENSP00000461909.1:p.Gly62Val
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.339G>T
  hgvsp: ENST00000375137.2:c.339G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.-31G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.470G>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.554-79G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.339G>T
  hgvsp: ENST00000324816.6:c.339G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.339G>T
  hgvsp: ENST00000395523.1:c.339G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000465047
  gene symbol: PPT2
  hgvsc: ENST00000465047.1:n.168G>T
  variant of: http://identifiers.org/hgnc/9326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly62Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

6-32123469-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123469
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123469
    reference: chr 6
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.188C>T
  hgvsp: ENSP00000461909.1:p.Ala63Val
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.188C>T
  hgvsp: ENSP00000463570.1:p.Ala63Val
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.184-76C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.188C>T
  hgvsp: ENSP00000395456.2:p.Ala63Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.342C>T
  hgvsp: ENST00000375143.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.342C>T
  hgvsp: ENST00000422437.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.291C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.342C>T
  hgvsp: ENST00000375137.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.-28C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.342C>T
  hgvsp: ENST00000445576.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.342C>T
  hgvsp: ENST00000414204.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.342C>T
  hgvsp: ENST00000395523.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.473C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.342C>T
  hgvsp: ENST00000324816.6:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.342C>T
  hgvsp: ENST00000428388.2:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000465047
  gene symbol: PPT2
  hgvsc: ENST00000465047.1:n.171C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.554-76C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.360C>T
  hgvsp: ENST00000361568.2:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala63Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-32123473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123473
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123473
    reference: chr 6
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.295G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.192G>A
  hgvsp: ENST00000585246.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.346G>A
  hgvsp: ENSP00000455087.1:p.Val116Met
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.346G>A
  hgvsp: ENSP00000457534.1:p.Val116Met
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.346G>A
  hgvsp: ENSP00000320528.6:p.Val116Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.192G>A
  hgvsp: ENST00000436118.2:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.346G>A
  hgvsp: ENSP00000378894.1:p.Val116Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.346G>A
  hgvsp: ENSP00000364285.2:p.Val116Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.346G>A
  hgvsp: ENSP00000364279.2:p.Val116Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.364G>A
  hgvsp: ENSP00000354608.2:p.Val122Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.192G>A
  hgvsp: ENST00000583227.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.346G>A
  hgvsp: ENSP00000398847.1:p.Val116Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.477G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.554-72G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.-24G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000465047
  gene symbol: PPT2
  hgvsc: ENST00000465047.1:n.175G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.184-72G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.346G>A
  hgvsp: ENSP00000412381.2:p.Val116Met
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val116Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

6-32123494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123494
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123494
    reference: chr 6
allele count: 23
allele frequency: 1.894376173689586e-4
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.367G>A
  hgvsp: ENSP00000364279.2:p.Val123Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.213G>A
  hgvsp: ENST00000585246.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.367G>A
  hgvsp: ENSP00000364285.2:p.Val123Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.385G>A
  hgvsp: ENSP00000354608.2:p.Val129Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.367G>A
  hgvsp: ENSP00000378894.1:p.Val123Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.367G>A
  hgvsp: ENSP00000455087.1:p.Val123Ile
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000465047
  gene symbol: PPT2
  hgvsc: ENST00000465047.1:n.196G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.367G>A
  hgvsp: ENSP00000457534.1:p.Val123Ile
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.554-51G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.316G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.367G>A
  hgvsp: ENSP00000412381.2:p.Val123Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.367G>A
  hgvsp: ENSP00000320528.6:p.Val123Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.-3G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.367G>A
  hgvsp: ENSP00000398847.1:p.Val123Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.184-51G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.213G>A
  hgvsp: ENST00000436118.2:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.498G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.213G>A
  hgvsp: ENST00000583227.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val123Ile
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

6-32123494-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123494
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123494
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.367G>T
  hgvsp: ENSP00000398847.1:p.Val123Phe
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.316G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.367G>T
  hgvsp: ENSP00000457534.1:p.Val123Phe
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.367G>T
  hgvsp: ENSP00000378894.1:p.Val123Phe
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.367G>T
  hgvsp: ENSP00000455087.1:p.Val123Phe
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.367G>T
  hgvsp: ENSP00000364285.2:p.Val123Phe
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.498G>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.367G>T
  hgvsp: ENSP00000320528.6:p.Val123Phe
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000465047
  gene symbol: PPT2
  hgvsc: ENST00000465047.1:n.196G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.-3G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.184-51G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.213G>T
  hgvsp: ENST00000436118.2:c.213G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.385G>T
  hgvsp: ENSP00000354608.2:p.Val129Phe
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.213G>T
  hgvsp: ENST00000583227.1:c.213G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.367G>T
  hgvsp: ENSP00000364279.2:p.Val123Phe
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.367G>T
  hgvsp: ENSP00000412381.2:p.Val123Phe
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.554-51G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.213G>T
  hgvsp: ENST00000585246.1:c.213G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val123Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

6-32123495-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123495
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123495
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.368T>A
  hgvsp: ENSP00000457534.1:p.Val123Asp
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.214T>A
  hgvsp: ENSP00000461909.1:p.Ser72Thr
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.214T>A
  hgvsp: ENSP00000463570.1:p.Ser72Thr
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.499T>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.386T>A
  hgvsp: ENSP00000354608.2:p.Val129Asp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.214T>A
  hgvsp: ENSP00000395456.2:p.Ser72Thr
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.368T>A
  hgvsp: ENSP00000364285.2:p.Val123Asp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.368T>A
  hgvsp: ENSP00000398847.1:p.Val123Asp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.368T>A
  hgvsp: ENSP00000320528.6:p.Val123Asp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.317T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.554-50T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.368T>A
  hgvsp: ENSP00000455087.1:p.Val123Asp
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.368T>A
  hgvsp: ENSP00000378894.1:p.Val123Asp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.184-50T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000465047
  gene symbol: PPT2
  hgvsc: ENST00000465047.1:n.197T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.-2T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.368T>A
  hgvsp: ENSP00000364279.2:p.Val123Asp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.368T>A
  hgvsp: ENSP00000412381.2:p.Val123Asp
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val123Asp
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

6-32123505-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123505
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123505
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.224T>A
  hgvsp: ENSP00000463570.1:p.Ile75Asn
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.378T>A
  hgvsp: ENSP00000398847.1:p.Asp126Glu
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.554-40T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.184-40T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.378T>A
  hgvsp: ENSP00000412381.2:p.Asp126Glu
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.327T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.9T>A
  hgvsp: ENSP00000415350.2:p.Asp3Glu
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.378T>A
  hgvsp: ENSP00000457534.1:p.Asp126Glu
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.378T>A
  hgvsp: ENSP00000455087.1:p.Asp126Glu
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.224T>A
  hgvsp: ENSP00000461909.1:p.Ile75Asn
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.396T>A
  hgvsp: ENSP00000354608.2:p.Asp132Glu
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.378T>A
  hgvsp: ENSP00000378894.1:p.Asp126Glu
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.378T>A
  hgvsp: ENSP00000320528.6:p.Asp126Glu
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.224T>A
  hgvsp: ENSP00000395456.2:p.Ile75Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.378T>A
  hgvsp: ENSP00000364279.2:p.Asp126Glu
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.378T>A
  hgvsp: ENSP00000364285.2:p.Asp126Glu
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.509T>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000465047
  gene symbol: PPT2
  hgvsc: ENST00000465047.1:n.207T>A
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp126Glu
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: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

6-32123531-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123531
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123531
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.404T>G
  hgvsp: ENSP00000320528.6:p.Leu135Arg
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.404T>G
  hgvsp: ENSP00000412381.2:p.Leu135Arg
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.554-14T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.404T>G
  hgvsp: ENSP00000378894.1:p.Leu135Arg
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.404T>G
  hgvsp: ENSP00000457534.1:p.Leu135Arg
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.404T>G
  hgvsp: ENSP00000398847.1:p.Leu135Arg
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.353T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.35T>G
  hgvsp: ENSP00000415350.2:p.Leu12Arg
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.422T>G
  hgvsp: ENSP00000354608.2:p.Leu141Arg
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.250T>G
  hgvsp: ENSP00000463570.1:p.Ser84Ala
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.250T>G
  hgvsp: ENSP00000461909.1:p.Ser84Ala
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.184-14T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.404T>G
  hgvsp: ENSP00000455087.1:p.Leu135Arg
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000465047
  gene symbol: PPT2
  hgvsc: ENST00000465047.1:n.233T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.535T>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.250T>G
  hgvsp: ENSP00000395456.2:p.Ser84Ala
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.404T>G
  hgvsp: ENSP00000364285.2:p.Leu135Arg
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.404T>G
  hgvsp: ENSP00000364279.2:p.Leu135Arg
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu135Arg
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

6-32123542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123542
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123542
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.415C>T
  hgvsp: ENSP00000364279.2:p.Gln139Ter
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.415C>T
  hgvsp: ENSP00000378894.1:p.Gln139Ter
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.261C>T
  hgvsp: ENST00000583227.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.415C>T
  hgvsp: ENSP00000320528.6:p.Gln139Ter
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.546C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.433C>T
  hgvsp: ENSP00000354608.2:p.Gln145Ter
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.261C>T
  hgvsp: ENST00000436118.2:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.46C>T
  hgvsp: ENSP00000415350.2:p.Gln16Ter
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.184-3C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.415C>T
  hgvsp: ENSP00000364285.2:p.Gln139Ter
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.415C>T
  hgvsp: ENSP00000398847.1:p.Gln139Ter
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.415C>T
  hgvsp: ENSP00000457534.1:p.Gln139Ter
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.554-3C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.364C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.415C>T
  hgvsp: ENSP00000412381.2:p.Gln139Ter
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.261C>T
  hgvsp: ENST00000585246.1:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.415C>T
  hgvsp: ENSP00000455087.1:p.Gln139Ter
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln145Ter
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

6-32123556-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123556
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123556
    reference: chr 6
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.429T>C
  hgvsp: ENST00000324816.6:c.429T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.429T>C
  hgvsp: ENST00000428388.2:c.429T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.378T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.275T>C
  hgvsp: ENSP00000395456.2:p.Met92Thr
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.447T>C
  hgvsp: ENST00000361568.2:c.447T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.429T>C
  hgvsp: ENST00000395523.1:c.429T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.60T>C
  hgvsp: ENST00000437001.2:c.60T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.275T>C
  hgvsp: ENSP00000461909.1:p.Met92Thr
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.275T>C
  hgvsp: ENSP00000463570.1:p.Met92Thr
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.565T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.429T>C
  hgvsp: ENST00000445576.2:c.429T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.195T>C
  hgvsp: ENST00000424499.1:c.195T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.429T>C
  hgvsp: ENST00000375143.2:c.429T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.429T>C
  hgvsp: ENST00000414204.1:c.429T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.560T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.429T>C
  hgvsp: ENST00000375137.2:c.429T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.429T>C
  hgvsp: ENST00000422437.1:c.429T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met92Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

6-32123580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123580
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123580
    reference: chr 6
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.279+20C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.64+20C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.199+20C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.279+20C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.433+20C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.433+20C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.382+20C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.451+20C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.433+20C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.433+20C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.433+20C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.433+20C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.564+20C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.433+20C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.433+20C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.569+20C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.279+20C>T
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12527
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

6-32123601-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123601
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123601
    reference: chr 6
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.382+41G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.433+41G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.433+41G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.279+41G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.564+41G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.199+41G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.569+41G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.433+41G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.279+41G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.433+41G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.451+41G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.433+41G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.64+41G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.279+41G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.433+41G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.433+41G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.433+41G>A
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

6-32123602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123602
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123602
    reference: chr 6
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.433+42G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.199+42G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.64+42G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.382+42G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.569+42G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.279+42G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.433+42G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.433+42G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.564+42G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.433+42G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.433+42G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.433+42G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.451+42G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.433+42G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.279+42G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.279+42G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.433+42G>A
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

6-32123606-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123606
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123606
    reference: chr 6
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.434-42A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.434-42A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.565-42A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.280-42A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.200-42A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.383-42A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.280-42A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.434-42A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.65-42A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.452-42A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.434-42A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.434-42A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.280-42A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.434-42A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.434-42A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.434-42A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.570-42A>G
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9323
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

6-32123617-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123617
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123617
    reference: chr 6
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.565-31T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.200-31T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.280-31T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.434-31T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.434-31T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.570-31T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.280-31T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.434-31T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.383-31T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.65-31T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.434-31T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.434-31T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.434-31T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.434-31T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.434-31T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.280-31T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.452-31T>C
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

6-32123636-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123636
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123636
    reference: chr 6
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.434-12T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.280-12T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.565-12T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.65-12T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.434-12T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.383-12T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.570-12T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.280-12T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.434-12T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.434-12T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.280-12T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.452-12T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.200-12T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.434-12T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.434-12T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.434-12T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.434-12T>C
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

6-32123638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123638
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123638
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.280-10C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.434-10C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.434-10C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.383-10C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.434-10C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.434-10C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.434-10C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.434-10C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.452-10C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.434-10C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.280-10C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.565-10C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.434-10C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.570-10C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.200-10C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.280-10C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.65-10C>T
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

6-32123638-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123638
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123637
    reference: chr 6
allele count: 11
allele frequency: 9.062000560196398e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.434-9delG
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.65-9delG
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.434-9delG
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.434-9delG
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.434-9delG
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.434-9delG
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.434-9delG
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.383-9delG
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.434-9delG
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.570-9delG
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.280-9delG
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.565-9delG
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.280-9delG
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.280-9delG
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.434-9delG
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.452-9delG
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.200-9delG
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: CG
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

6-32123639-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123639
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123639
    reference: chr 6
allele count: 18804
allele frequency: 1.549797250519236e-1
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.434-9G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.434-9G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.570-9G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.65-9G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.452-9G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.434-9G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.383-9G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.434-9G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.434-9G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.280-9G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.565-9G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.434-9G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.200-9G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.434-9G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.280-9G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.280-9G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.434-9G>A
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 5.25e1
  variant carriers: 461
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 341
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 4.25e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 6.75e1
  variant carriers: 1093
genotype quality: GenotypeQuality
num of homozygotes: 1833
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-32123642-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123642
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123642
    reference: chr 6
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.280-6T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.434-6T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.452-6T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.280-6T>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.200-6T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.570-6T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.434-6T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.434-6T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.434-6T>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.434-6T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.383-6T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.565-6T>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.65-6T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.434-6T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.434-6T>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.280-6T>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.434-6T>A
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14087
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.434-6T>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

6-32123651-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123651
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123651
    reference: chr 6
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.437C>T
  hgvsp: ENSP00000364285.2:p.Thr146Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.68C>T
  hgvsp: ENSP00000415350.2:p.Thr23Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.437C>T
  hgvsp: ENSP00000364279.2:p.Thr146Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.455C>T
  hgvsp: ENSP00000354608.2:p.Thr152Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.437C>T
  hgvsp: ENSP00000320528.6:p.Thr146Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.203C>T
  hgvsp: ENSP00000409877.1:p.Thr68Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.283C>T
  hgvsp: ENSP00000463570.1:p.Arg95Trp
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.283C>T
  hgvsp: ENSP00000395456.2:p.Arg95Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.283C>T
  hgvsp: ENSP00000461909.1:p.Arg95Trp
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.437C>T
  hgvsp: ENSP00000398847.1:p.Thr146Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.437C>T
  hgvsp: ENSP00000378894.1:p.Thr146Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.437C>T
  hgvsp: ENSP00000412381.2:p.Thr146Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.437C>T
  hgvsp: ENSP00000455087.1:p.Thr146Met
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.386C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.573C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.568C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.437C>T
  hgvsp: ENSP00000457534.1:p.Thr146Met
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Thr146Met
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

6-32123652-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123652
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123652
    reference: chr 6
allele count: 87
allele frequency: 7.170526662820407e-4
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.438G>A
  hgvsp: ENST00000375137.2:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.438G>A
  hgvsp: ENST00000324816.6:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.456G>A
  hgvsp: ENST00000361568.2:c.456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.69G>A
  hgvsp: ENST00000437001.2:c.69G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.284G>A
  hgvsp: ENSP00000395456.2:p.Arg95Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.438G>A
  hgvsp: ENST00000375143.2:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.284G>A
  hgvsp: ENSP00000463570.1:p.Arg95Gln
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.438G>A
  hgvsp: ENST00000428388.2:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.438G>A
  hgvsp: ENST00000414204.1:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.204G>A
  hgvsp: ENST00000424499.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.569G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.438G>A
  hgvsp: ENST00000445576.2:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.438G>A
  hgvsp: ENST00000395523.1:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.574G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.284G>A
  hgvsp: ENSP00000461909.1:p.Arg95Gln
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.387G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.438G>A
  hgvsp: ENST00000422437.1:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
hgvs: p.Arg95Gln
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

6-32123654-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123654
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123654
    reference: chr 6
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.71A>G
  hgvsp: ENSP00000415350.2:p.Asp24Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.440A>G
  hgvsp: ENSP00000412381.2:p.Asp147Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.440A>G
  hgvsp: ENSP00000455087.1:p.Asp147Gly
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.440A>G
  hgvsp: ENSP00000320528.6:p.Asp147Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.286A>G
  hgvsp: ENSP00000463570.1:p.Thr96Ala
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.440A>G
  hgvsp: ENSP00000378894.1:p.Asp147Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.458A>G
  hgvsp: ENSP00000354608.2:p.Asp153Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.286A>G
  hgvsp: ENSP00000461909.1:p.Thr96Ala
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.440A>G
  hgvsp: ENSP00000364279.2:p.Asp147Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.576A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.286A>G
  hgvsp: ENSP00000395456.2:p.Thr96Ala
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.440A>G
  hgvsp: ENSP00000364285.2:p.Asp147Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.389A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.571A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.440A>G
  hgvsp: ENSP00000398847.1:p.Asp147Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.440A>G
  hgvsp: ENSP00000457534.1:p.Asp147Gly
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.206A>G
  hgvsp: ENSP00000409877.1:p.Asp69Gly
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp147Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

6-32123663-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123663
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123663
    reference: chr 6
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.449A>T
  hgvsp: ENSP00000412381.2:p.Lys150Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.449A>T
  hgvsp: ENSP00000320528.6:p.Lys150Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.467A>T
  hgvsp: ENSP00000354608.2:p.Lys156Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*1A>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.449A>T
  hgvsp: ENSP00000378894.1:p.Lys150Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.449A>T
  hgvsp: ENSP00000364279.2:p.Lys150Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.80A>T
  hgvsp: ENSP00000415350.2:p.Lys27Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*1A>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*1A>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.449A>T
  hgvsp: ENSP00000455087.1:p.Lys150Met
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.449A>T
  hgvsp: ENSP00000398847.1:p.Lys150Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.585A>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.398A>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.449A>T
  hgvsp: ENSP00000364285.2:p.Lys150Met
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.580A>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.449A>T
  hgvsp: ENSP00000457534.1:p.Lys150Met
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.215A>T
  hgvsp: ENSP00000409877.1:p.Lys72Met
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys156Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

6-32123669-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123669
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123670
    reference: chr 6
allele count: 1
allele frequency: 8.608518990392892e-6
allele num: 116164
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.456dupG
  hgvsp: ENSP00000320528.6:p.Phe153ValfsTer8
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.456dupG
  hgvsp: ENSP00000455087.1:p.Phe153ValfsTer8
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*8dupG
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.474dupG
  hgvsp: ENSP00000354608.2:p.Phe159ValfsTer8
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.456dupG
  hgvsp: ENSP00000398847.1:p.Phe153ValfsTer8
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.456dupG
  hgvsp: ENSP00000412381.2:p.Phe153ValfsTer8
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.222dupG
  hgvsp: ENSP00000409877.1:p.Phe75ValfsTer8
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.405dupG
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*8dupG
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.587dupG
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.456dupG
  hgvsp: ENSP00000378894.1:p.Phe153ValfsTer8
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.456dupG
  hgvsp: ENSP00000364285.2:p.Phe153ValfsTer8
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.456dupG
  hgvsp: ENSP00000364279.2:p.Phe153ValfsTer8
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.87dupG
  hgvsp: ENSP00000415350.2:p.Phe30ValfsTer8
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*8dupG
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.456dupG
  hgvsp: ENSP00000457534.1:p.Phe153ValfsTer8
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.592dupG
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe159ValfsTer8
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

6-32123671-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123671
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123671
    reference: chr 6
allele count: 1052
allele frequency: 8.798782221776149e-3
allele num: 119562
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.475T>G
  hgvsp: ENSP00000354608.2:p.Phe159Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*9T>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.457T>G
  hgvsp: ENSP00000457534.1:p.Phe153Val
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.588T>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.457T>G
  hgvsp: ENSP00000320528.6:p.Phe153Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.457T>G
  hgvsp: ENSP00000364285.2:p.Phe153Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.88T>G
  hgvsp: ENSP00000415350.2:p.Phe30Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.457T>G
  hgvsp: ENSP00000412381.2:p.Phe153Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.457T>G
  hgvsp: ENSP00000398847.1:p.Phe153Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.223T>G
  hgvsp: ENSP00000409877.1:p.Phe75Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.457T>G
  hgvsp: ENSP00000378894.1:p.Phe153Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*9T>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.457T>G
  hgvsp: ENSP00000364279.2:p.Phe153Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.593T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*9T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.406T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.457T>G
  hgvsp: ENSP00000455087.1:p.Phe153Val
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 15578
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 4.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 6.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
hgvs: p.Phe159Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

6-32123673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123673
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123673
    reference: chr 6
allele count: 3
allele frequency: 2.479092982514131e-5
allele num: 121012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.459C>T
  hgvsp: ENST00000324816.6:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.459C>T
  hgvsp: ENST00000445576.2:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.595C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.590C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.459C>T
  hgvsp: ENST00000428388.2:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.459C>T
  hgvsp: ENST00000395523.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.459C>T
  hgvsp: ENST00000422437.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.90C>T
  hgvsp: ENST00000437001.2:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.459C>T
  hgvsp: ENST00000375143.2:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.459C>T
  hgvsp: ENST00000375137.2:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*11C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.459C>T
  hgvsp: ENST00000414204.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.408C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.225C>T
  hgvsp: ENST00000424499.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.477C>T
  hgvsp: ENST00000361568.2:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe159Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/6-32123677-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123677
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123677
    reference: chr 6
allele count: 27
allele frequency: 2.236876988335101e-4
allele num: 120704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.599A>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.481A>C
  hgvsp: ENSP00000354608.2:p.Thr161Pro
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.463A>C
  hgvsp: ENSP00000455087.1:p.Thr155Pro
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.594A>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.463A>C
  hgvsp: ENSP00000364279.2:p.Thr155Pro
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.463A>C
  hgvsp: ENSP00000412381.2:p.Thr155Pro
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.463A>C
  hgvsp: ENSP00000398847.1:p.Thr155Pro
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.463A>C
  hgvsp: ENSP00000378894.1:p.Thr155Pro
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.463A>C
  hgvsp: ENSP00000320528.6:p.Thr155Pro
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.94A>C
  hgvsp: ENSP00000415350.2:p.Thr32Pro
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.229A>C
  hgvsp: ENSP00000409877.1:p.Thr77Pro
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*15A>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.463A>C
  hgvsp: ENSP00000457534.1:p.Thr155Pro
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.412A>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.463A>C
  hgvsp: ENSP00000364285.2:p.Thr155Pro
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr161Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/6-32123686-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123686
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123686
    reference: chr 6
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.472C>A
  hgvsp: ENST00000324816.6:c.472C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.421C>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.472C>A
  hgvsp: ENST00000422437.1:c.472C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.238C>A
  hgvsp: ENST00000424499.1:c.238C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.103C>A
  hgvsp: ENST00000437001.2:c.103C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.603C>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.490C>A
  hgvsp: ENST00000361568.2:c.490C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*24C>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.472C>A
  hgvsp: ENST00000445576.2:c.472C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.472C>A
  hgvsp: ENST00000395523.1:c.472C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.472C>A
  hgvsp: ENST00000375137.2:c.472C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.472C>A
  hgvsp: ENST00000414204.1:c.472C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.608C>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.472C>A
  hgvsp: ENST00000428388.2:c.472C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.472C>A
  hgvsp: ENST00000375143.2:c.472C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*24C>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*24C>A
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5784
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg164Arg
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

6-32123686-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123686
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123686
    reference: chr 6
allele count: 2
allele frequency: 1.657742486282181e-5
allele num: 120646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.472C>T
  hgvsp: ENSP00000364279.2:p.Arg158Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.472C>T
  hgvsp: ENSP00000457534.1:p.Arg158Trp
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.472C>T
  hgvsp: ENSP00000320528.6:p.Arg158Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.608C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.472C>T
  hgvsp: ENSP00000412381.2:p.Arg158Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.472C>T
  hgvsp: ENSP00000455087.1:p.Arg158Trp
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.472C>T
  hgvsp: ENSP00000398847.1:p.Arg158Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.421C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.472C>T
  hgvsp: ENSP00000378894.1:p.Arg158Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.603C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*24C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.472C>T
  hgvsp: ENSP00000364285.2:p.Arg158Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.490C>T
  hgvsp: ENSP00000354608.2:p.Arg164Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*24C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.103C>T
  hgvsp: ENSP00000415350.2:p.Arg35Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.238C>T
  hgvsp: ENSP00000409877.1:p.Arg80Trp
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg164Trp
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

6-32123687-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123687
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123687
    reference: chr 6
allele count: 3
allele frequency: 2.48714972641353e-5
allele num: 120620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.604G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.473G>A
  hgvsp: ENSP00000398847.1:p.Arg158Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.473G>A
  hgvsp: ENSP00000412381.2:p.Arg158Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.473G>A
  hgvsp: ENSP00000364285.2:p.Arg158Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.491G>A
  hgvsp: ENSP00000354608.2:p.Arg164Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.422G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.104G>A
  hgvsp: ENSP00000415350.2:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.473G>A
  hgvsp: ENSP00000457534.1:p.Arg158Gln
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.239G>A
  hgvsp: ENSP00000409877.1:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.473G>A
  hgvsp: ENSP00000378894.1:p.Arg158Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.473G>A
  hgvsp: ENSP00000320528.6:p.Arg158Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.473G>A
  hgvsp: ENSP00000364279.2:p.Arg158Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*25G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*25G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.609G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.473G>A
  hgvsp: ENSP00000455087.1:p.Arg158Gln
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg164Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

6-32123694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123694
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123694
    reference: chr 6
allele count: 2
allele frequency: 1.662759182587586e-5
allele num: 120282
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.480C>T
  hgvsp: ENST00000422437.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.429C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.246C>T
  hgvsp: ENST00000424499.1:c.246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.480C>T
  hgvsp: ENST00000445576.2:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.480C>T
  hgvsp: ENST00000324816.6:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.480C>T
  hgvsp: ENST00000375137.2:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*32C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*32C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.480C>T
  hgvsp: ENST00000428388.2:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.480C>T
  hgvsp: ENST00000414204.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.480C>T
  hgvsp: ENST00000395523.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.616C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.498C>T
  hgvsp: ENST00000361568.2:c.498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.480C>T
  hgvsp: ENST00000375143.2:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.611C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.111C>T
  hgvsp: ENST00000437001.2:c.111C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn166Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

6-32123701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123701
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123701
    reference: chr 6
allele count: 2
allele frequency: 1.667556029882604e-5
allele num: 119936
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.487C>T
  hgvsp: ENSP00000364285.2:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*39C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.487C>T
  hgvsp: ENSP00000398847.1:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.487C>T
  hgvsp: ENSP00000457534.1:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.487C>T
  hgvsp: ENSP00000455087.1:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*39C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.118C>T
  hgvsp: ENSP00000415350.2:p.Arg40Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.487C>T
  hgvsp: ENSP00000364279.2:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.487C>T
  hgvsp: ENSP00000412381.2:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*39C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.487C>T
  hgvsp: ENSP00000378894.1:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.253C>T
  hgvsp: ENSP00000409877.1:p.Arg85Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.487C>T
  hgvsp: ENSP00000320528.6:p.Arg163Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.505C>T
  hgvsp: ENSP00000354608.2:p.Arg169Trp
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.436C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.623C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.618C>T
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg169Trp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

6-32123702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123702
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123702
    reference: chr 6
allele count: 1
allele frequency: 8.340979230961715e-6
allele num: 119890
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.254G>A
  hgvsp: ENSP00000409877.1:p.Arg85Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*40G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.488G>A
  hgvsp: ENSP00000412381.2:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.506G>A
  hgvsp: ENSP00000354608.2:p.Arg169Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.488G>A
  hgvsp: ENSP00000364279.2:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.624G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.488G>A
  hgvsp: ENSP00000378894.1:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.619G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.488G>A
  hgvsp: ENSP00000320528.6:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.119G>A
  hgvsp: ENSP00000415350.2:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.488G>A
  hgvsp: ENSP00000455087.1:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.437G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.488G>A
  hgvsp: ENSP00000364285.2:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.488G>A
  hgvsp: ENSP00000398847.1:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*40G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.488G>A
  hgvsp: ENSP00000457534.1:p.Arg163Gln
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg169Gln
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

6-32123711-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123711
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123711
    reference: chr 6
allele count: 1
allele frequency: 8.3948959032908e-6
allele num: 119120
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.446A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.497A>G
  hgvsp: ENSP00000398847.1:p.Tyr166Cys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.633A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*49A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.263A>G
  hgvsp: ENSP00000409877.1:p.Tyr88Cys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.497A>G
  hgvsp: ENSP00000364279.2:p.Tyr166Cys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.497A>G
  hgvsp: ENSP00000378894.1:p.Tyr166Cys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.128A>G
  hgvsp: ENSP00000415350.2:p.Tyr43Cys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.497A>G
  hgvsp: ENSP00000457534.1:p.Tyr166Cys
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.497A>G
  hgvsp: ENSP00000412381.2:p.Tyr166Cys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.497A>G
  hgvsp: ENSP00000320528.6:p.Tyr166Cys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.497A>G
  hgvsp: ENSP00000455087.1:p.Tyr166Cys
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.497A>G
  hgvsp: ENSP00000364285.2:p.Tyr166Cys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*49A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*49A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.515A>G
  hgvsp: ENSP00000354608.2:p.Tyr172Cys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.628A>G
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13641
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr172Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

6-32123712-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123712
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123712
    reference: chr 6
allele count: 2
allele frequency: 1.679458542565877e-5
allele num: 119086
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.516T>C
  hgvsp: ENST00000361568.2:c.516T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.498T>C
  hgvsp: ENST00000422437.1:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.129T>C
  hgvsp: ENST00000437001.2:c.129T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.634T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*50T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.498T>C
  hgvsp: ENST00000324816.6:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*50T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.498T>C
  hgvsp: ENST00000375143.2:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.498T>C
  hgvsp: ENST00000414204.1:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.498T>C
  hgvsp: ENST00000375137.2:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.498T>C
  hgvsp: ENST00000445576.2:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.498T>C
  hgvsp: ENST00000428388.2:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.498T>C
  hgvsp: ENST00000395523.1:c.498T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.447T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.629T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.264T>C
  hgvsp: ENST00000424499.1:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*50T>C
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr172Tyr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-32123713-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123713
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123713
    reference: chr 6
allele count: 15
allele frequency: 1.260017136233053e-4
allele num: 119046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.499A>G
  hgvsp: ENSP00000320528.6:p.Ser167Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.499A>G
  hgvsp: ENSP00000455087.1:p.Ser167Gly
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.499A>G
  hgvsp: ENSP00000398847.1:p.Ser167Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.517A>G
  hgvsp: ENSP00000354608.2:p.Ser173Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.265A>G
  hgvsp: ENSP00000409877.1:p.Ser89Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.499A>G
  hgvsp: ENSP00000378894.1:p.Ser167Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.499A>G
  hgvsp: ENSP00000364279.2:p.Ser167Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.499A>G
  hgvsp: ENSP00000457534.1:p.Ser167Gly
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.499A>G
  hgvsp: ENSP00000364285.2:p.Ser167Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.130A>G
  hgvsp: ENSP00000415350.2:p.Ser44Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*51A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*51A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*51A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.499A>G
  hgvsp: ENSP00000412381.2:p.Ser167Gly
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.635A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.630A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.448A>G
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser173Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

6-32123714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123714
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123714
    reference: chr 6
allele count: 1
allele frequency: 8.414108777598277e-6
allele num: 118848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.500G>A
  hgvsp: ENSP00000398847.1:p.Ser167Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.266G>A
  hgvsp: ENSP00000409877.1:p.Ser89Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.500G>A
  hgvsp: ENSP00000455087.1:p.Ser167Asn
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.631G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.500G>A
  hgvsp: ENSP00000412381.2:p.Ser167Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.131G>A
  hgvsp: ENSP00000415350.2:p.Ser44Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.500G>A
  hgvsp: ENSP00000457534.1:p.Ser167Asn
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.518G>A
  hgvsp: ENSP00000354608.2:p.Ser173Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.500G>A
  hgvsp: ENSP00000378894.1:p.Ser167Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.500G>A
  hgvsp: ENSP00000364279.2:p.Ser167Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.500G>A
  hgvsp: ENSP00000364285.2:p.Ser167Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.500G>A
  hgvsp: ENSP00000320528.6:p.Ser167Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*52G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*52G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*52G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.636G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.449G>A
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser173Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

6-32123728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123728
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123728
    reference: chr 6
allele count: 1
allele frequency: 8.44409166905916e-6
allele num: 118426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.514G>A
  hgvsp: ENSP00000398847.1:p.Glu172Lys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.514G>A
  hgvsp: ENSP00000457534.1:p.Glu172Lys
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*66G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.514G>A
  hgvsp: ENSP00000320528.6:p.Glu172Lys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.514G>A
  hgvsp: ENSP00000455087.1:p.Glu172Lys
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.514G>A
  hgvsp: ENSP00000378894.1:p.Glu172Lys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.145G>A
  hgvsp: ENSP00000415350.2:p.Glu49Lys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.514G>A
  hgvsp: ENSP00000364279.2:p.Glu172Lys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.650G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*66G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.280G>A
  hgvsp: ENSP00000409877.1:p.Glu94Lys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.532G>A
  hgvsp: ENSP00000354608.2:p.Glu178Lys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*66G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.514G>A
  hgvsp: ENSP00000364285.2:p.Glu172Lys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.463G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.514G>A
  hgvsp: ENSP00000412381.2:p.Glu172Lys
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.645G>A
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu178Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

6-32123752-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123752
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123752
    reference: chr 6
allele count: 1
allele frequency: 8.520355128401752e-6
allele num: 117366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*90C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.538C>T
  hgvsp: ENSP00000320528.6:p.His180Tyr
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.538C>T
  hgvsp: ENSP00000364279.2:p.His180Tyr
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.538C>T
  hgvsp: ENSP00000364285.2:p.His180Tyr
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.538C>T
  hgvsp: ENSP00000412381.2:p.His180Tyr
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.669C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.538C>T
  hgvsp: ENSP00000398847.1:p.His180Tyr
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.538C>T
  hgvsp: ENSP00000378894.1:p.His180Tyr
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.304C>T
  hgvsp: ENSP00000409877.1:p.His102Tyr
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.538C>T
  hgvsp: ENSP00000457534.1:p.His180Tyr
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.538C>T
  hgvsp: ENSP00000455087.1:p.His180Tyr
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.556C>T
  hgvsp: ENSP00000354608.2:p.His186Tyr
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.169C>T
  hgvsp: ENSP00000415350.2:p.His57Tyr
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*90C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.487C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.674C>T
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His186Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

6-32123754-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123754
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123754
    reference: chr 6
allele count: 1
allele frequency: 8.522969402539845e-6
allele num: 117330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000398847
  ensembl transcript: ENST00000414204
  gene symbol: PPT2
  hgvsc: ENST00000414204.1:c.540T>C
  hgvsp: ENST00000414204.1:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.540T>C
  hgvsp: ENST00000395523.1:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.671T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.676T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.171T>C
  hgvsp: ENST00000437001.2:c.171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.540T>C
  hgvsp: ENST00000324816.6:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.540T>C
  hgvsp: ENST00000375137.2:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.540T>C
  hgvsp: ENST00000428388.2:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.540T>C
  hgvsp: ENST00000422437.1:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*92T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*92T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.540T>C
  hgvsp: ENST00000375143.2:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*92T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.306T>C
  hgvsp: ENST00000424499.1:c.306T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.489T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.540T>C
  hgvsp: ENST00000445576.2:c.540T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.558T>C
  hgvsp: ENST00000361568.2:c.558T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.540T>C
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-32123769-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123769
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123769
    reference: chr 6
allele count: 1
allele frequency: 8.550662676357418e-6
allele num: 116950
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.559+14C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*93+14C>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.541+14C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.672+14C>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*93+14C>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.172+14C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*93+14C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.307+14C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.541+14C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.541+14C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.541+14C>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.541+14C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.490+14C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.677+14C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.541+14C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.541+14C>G
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13417
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

6-32123797-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123797
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123797
    reference: chr 6
allele count: 1
allele frequency: 8.587524045067326e-6
allele num: 116448
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.559+42A>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.541+42A>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.541+42A>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.541+42A>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.541+42A>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*93+42A>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.490+42A>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.541+42A>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.541+42A>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.541+42A>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.172+42A>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.672+42A>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.677+42A>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*93+42A>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*93+42A>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.307+42A>T
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11818
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

6-32123806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32123806
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32123806
    reference: chr 6
allele count: 3
allele frequency: 2.58086717136958e-5
allele num: 116240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.541+51C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.172+51C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.672+51C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.677+51C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.559+51C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.541+51C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*93+51C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.541+51C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*93+51C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*93+51C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.490+51C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.541+51C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.541+51C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.541+51C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.307+51C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.541+51C>T
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11239
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

6-32125370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125370
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125370
    reference: chr 6
allele count: 3
allele frequency: 2.596053997923157e-5
allele num: 115560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.673-44G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.104G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.542-44G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.542-44G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*94-44G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.542-44G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.560-44G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.483G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.678-44G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*94-44G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.542-44G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.542-44G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.308-44G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.491-44G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.173-44G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*94-44G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.542-44G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.542-44G>A
  variant of: http://identifiers.org/hgnc/9326
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

6-32125376-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125376
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125376
    reference: chr 6
allele count: 1
allele frequency: 8.642295393656555e-6
allele num: 115710
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.542-38C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.542-38C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.491-38C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.489C>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.308-38C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.542-38C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.173-38C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.542-38C>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*94-38C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.110C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*94-38C>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.560-38C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*94-38C>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.542-38C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.542-38C>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.678-38C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.542-38C>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.673-38C>G
  variant of: http://identifiers.org/hgnc/48343
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

6-32125400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125400
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125400
    reference: chr 6
allele count: 7
allele frequency: 6.027727546714889e-5
allele num: 116130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.491-14C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.560-14C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*94-14C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.542-14C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.513C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.673-14C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.134C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.308-14C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.542-14C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.542-14C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*94-14C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*94-14C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.542-14C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.542-14C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.678-14C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.542-14C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.542-14C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.173-14C>T
  variant of: http://identifiers.org/hgnc/9326
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

6-32125402-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125402
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125402
    reference: chr 6
allele count: 1
allele frequency: 8.609556607834696e-6
allele num: 116150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.136G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.542-12G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.173-12G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.542-12G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.678-12G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.542-12G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.491-12G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.542-12G>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.308-12G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.542-12G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.515G>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*94-12G>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*94-12G>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.560-12G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.542-12G>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.673-12G>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.542-12G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*94-12G>C
  variant of: http://identifiers.org/hgnc/9326
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14333
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

6-32125424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125424
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125424
    reference: chr 6
allele count: 3
allele frequency: 2.580023736218373e-5
allele num: 116278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.552C>T
  hgvsp: ENST00000375143.2:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*104C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.552C>T
  hgvsp: ENST00000422437.1:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.552C>T
  hgvsp: ENST00000395523.1:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*104C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.552C>T
  hgvsp: ENST00000428388.2:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.501C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.552C>T
  hgvsp: ENST00000375137.2:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.688C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.683C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.552C>T
  hgvsp: ENST00000324816.6:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.183C>T
  hgvsp: ENST00000437001.2:c.183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.552C>T
  hgvsp: ENST00000445576.2:c.552C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.318C>T
  hgvsp: ENST00000424499.1:c.318C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.570C>T
  hgvsp: ENST00000361568.2:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*104C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455023
  ensembl transcript: ENST00000421600
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000421600.2:c.11C>T
  hgvsp: ENST00000421600.2:c.11C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.537C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.158C>T
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His190His
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-32125425-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125425
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125425
    reference: chr 6
allele count: 9
allele frequency: 7.738873220059159e-5
allele num: 116296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.538G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.553G>A
  hgvsp: ENSP00000320528.6:p.Asp185Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.319G>A
  hgvsp: ENSP00000409877.1:p.Asp107Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.684G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.553G>A
  hgvsp: ENSP00000412381.2:p.Asp185Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.571G>A
  hgvsp: ENSP00000354608.2:p.Asp191Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.553G>A
  hgvsp: ENSP00000364285.2:p.Asp185Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.689G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.553G>A
  hgvsp: ENSP00000457534.1:p.Asp185Asn
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.553G>A
  hgvsp: ENSP00000455087.1:p.Asp185Asn
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455023
  ensembl transcript: ENST00000421600
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000421600.2:c.12G>A
  hgvsp: ENSP00000455023.2:p.Asp5Asn
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*105G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.553G>A
  hgvsp: ENSP00000378894.1:p.Asp185Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.553G>A
  hgvsp: ENSP00000364279.2:p.Asp185Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.184G>A
  hgvsp: ENSP00000415350.2:p.Asp62Asn
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.502G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.159G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*105G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*105G>A
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp191Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

6-32125436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125436
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125436
    reference: chr 6
allele count: 1
allele frequency: 8.597121683660311e-6
allele num: 116318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.700C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.582C>T
  hgvsp: ENST00000361568.2:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.564C>T
  hgvsp: ENST00000375143.2:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.513C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*116C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.564C>T
  hgvsp: ENST00000375137.2:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.549C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.564C>T
  hgvsp: ENST00000422437.1:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*116C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.695C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.564C>T
  hgvsp: ENST00000445576.2:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*116C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.564C>T
  hgvsp: ENST00000324816.6:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.564C>T
  hgvsp: ENST00000395523.1:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.195C>T
  hgvsp: ENST00000437001.2:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.564C>T
  hgvsp: ENST00000428388.2:c.564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.330C>T
  hgvsp: ENST00000424499.1:c.330C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.170C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455023
  ensembl transcript: ENST00000421600
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000421600.2:c.23C>T
  hgvsp: ENST00000421600.2:c.23C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr194Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

6-32125442-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125442
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125442
    reference: chr 6
allele count: 1
allele frequency: 8.596530440314289e-6
allele num: 116326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.701T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.570T>C
  hgvsp: ENST00000395523.1:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.519T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.570T>C
  hgvsp: ENST00000428388.2:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.570T>C
  hgvsp: ENST00000375143.2:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*122T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.336T>C
  hgvsp: ENST00000424499.1:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.570T>C
  hgvsp: ENST00000324816.6:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.570T>C
  hgvsp: ENST00000375137.2:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.588T>C
  hgvsp: ENST00000361568.2:c.588T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.201T>C
  hgvsp: ENST00000437001.2:c.201T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455023
  ensembl transcript: ENST00000421600
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000421600.2:c.29T>C
  hgvsp: ENST00000421600.2:c.29T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.176T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.570T>C
  hgvsp: ENST00000422437.1:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*122T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.706T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.555T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.570T>C
  hgvsp: ENST00000445576.2:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*122T>C
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn196Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

6-32125464-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125464
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125464
    reference: chr 6
allele count: 1
allele frequency: 8.597417335832316e-6
allele num: 116314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*144A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.223A>G
  hgvsp: ENSP00000415350.2:p.Ile75Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455023
  ensembl transcript: ENST00000421600
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000421600.2:c.51A>G
  hgvsp: ENSP00000455023.2:p.Ile18Val
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.592A>G
  hgvsp: ENSP00000455087.1:p.Ile198Val
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.723A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.592A>G
  hgvsp: ENSP00000320528.6:p.Ile198Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.610A>G
  hgvsp: ENSP00000354608.2:p.Ile204Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.592A>G
  hgvsp: ENSP00000457534.1:p.Ile198Val
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.577A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.358A>G
  hgvsp: ENSP00000409877.1:p.Ile120Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.592A>G
  hgvsp: ENSP00000364285.2:p.Ile198Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.541A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.592A>G
  hgvsp: ENSP00000412381.2:p.Ile198Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*144A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*144A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.592A>G
  hgvsp: ENSP00000364279.2:p.Ile198Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.198A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.592A>G
  hgvsp: ENSP00000378894.1:p.Ile198Val
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.728A>G
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile204Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

6-32125466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125466
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125466
    reference: chr 6
allele count: 1
allele frequency: 8.597269507204511e-6
allele num: 116316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.579C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.725C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.360C>T
  hgvsp: ENST00000424499.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.594C>T
  hgvsp: ENST00000324816.6:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.594C>T
  hgvsp: ENST00000422437.1:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.594C>T
  hgvsp: ENST00000445576.2:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.594C>T
  hgvsp: ENST00000375143.2:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.594C>T
  hgvsp: ENST00000375137.2:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.594C>T
  hgvsp: ENST00000428388.2:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*146C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455023
  ensembl transcript: ENST00000421600
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000421600.2:c.53C>T
  hgvsp: ENST00000421600.2:c.53C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.594C>T
  hgvsp: ENST00000395523.1:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*146C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.225C>T
  hgvsp: ENST00000437001.2:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.543C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*146C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.612C>T
  hgvsp: ENST00000361568.2:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.200C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.730C>T
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile204Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

6-32125468-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125468
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125468
    reference: chr 6
allele count: 1
allele frequency: 8.597121683660311e-6
allele num: 116318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.545A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.596A>G
  hgvsp: ENSP00000455087.1:p.Asn199Ser
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.596A>G
  hgvsp: ENSP00000364279.2:p.Asn199Ser
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.596A>G
  hgvsp: ENSP00000457534.1:p.Asn199Ser
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.727A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.202A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.362A>G
  hgvsp: ENSP00000409877.1:p.Asn121Ser
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.227A>G
  hgvsp: ENSP00000415350.2:p.Asn76Ser
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.732A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.581A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455023
  ensembl transcript: ENST00000421600
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000421600.2:c.55A>G
  hgvsp: ENSP00000455023.2:p.Asn19Ser
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.614A>G
  hgvsp: ENSP00000354608.2:p.Asn205Ser
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.596A>G
  hgvsp: ENSP00000378894.1:p.Asn199Ser
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*148A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.596A>G
  hgvsp: ENSP00000364285.2:p.Asn199Ser
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*148A>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.596A>G
  hgvsp: ENSP00000412381.2:p.Asn199Ser
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*148A>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.596A>G
  hgvsp: ENSP00000320528.6:p.Asn199Ser
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn205Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

6-32125497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125497
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125497
    reference: chr 6
allele count: 1
allele frequency: 8.604667171473808e-6
allele num: 116216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.391G>A
  hgvsp: ENSP00000409877.1:p.Val131Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.625G>A
  hgvsp: ENSP00000364285.2:p.Val209Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.625G>A
  hgvsp: ENSP00000378894.1:p.Val209Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.761G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.231G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.625G>A
  hgvsp: ENSP00000364279.2:p.Val209Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.625G>A
  hgvsp: ENSP00000320528.6:p.Val209Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.643G>A
  hgvsp: ENSP00000354608.2:p.Val215Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.574G>A
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.625G>A
  hgvsp: ENSP00000455087.1:p.Val209Ile
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455023
  ensembl transcript: ENST00000421600
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000421600.2:c.84G>A
  hgvsp: ENSP00000455023.2:p.Val29Ile
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.625G>A
  hgvsp: ENSP00000457534.1:p.Val209Ile
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.625G>A
  hgvsp: ENSP00000412381.2:p.Val209Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.756G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.610G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*177G>A
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.256G>A
  hgvsp: ENSP00000415350.2:p.Val86Ile
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*177G>A
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val215Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

6-32125499-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125499
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125499
    reference: chr 6
allele count: 2
allele frequency: 1.721229646459431e-5
allele num: 116196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.761+2T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.625+2T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.256+2T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.643+2T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.625+2T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*177+2T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.625+2T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.625+2T>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.391+2T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.574+2T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.625+2T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.625+2T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.231+2T>G
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.756+2T>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.625+2T>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*177+2T>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*177+2T>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455023
  ensembl transcript: ENST00000421600
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000421600.2:c.84+2T>G
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.610+2T>G
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.625+2T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

6-32125520-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125520
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125520
    reference: chr 6
allele count: 6
allele frequency: 5.181168180719146e-5
allele num: 115804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.761+23G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.625+23G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.625+23G>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*177+23G>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.643+23G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.256+23G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.625+23G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.625+23G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455023
  ensembl transcript: ENST00000421600
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000421600.2:c.84+23G>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.231+23G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.610+23G>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.391+23G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.756+23G>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*177+23G>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.574+23G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.625+23G>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.625+23G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.625+23G>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*177+23G>C
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-32125520-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125520
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125520
    reference: chr 6
allele count: 1
allele frequency: 8.635280301198577e-6
allele num: 115804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.761+23G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*177+23G>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.256+23G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.756+23G>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.574+23G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.625+23G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.391+23G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.231+23G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.625+23G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.610+23G>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.625+23G>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*177+23G>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.625+23G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*177+23G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.625+23G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.625+23G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.643+23G>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.625+23G>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455023
  ensembl transcript: ENST00000421600
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000421600.2:c.84+23G>T
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11090
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-32125537-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125537
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125537
    reference: chr 6
allele count: 1
allele frequency: 8.667013347200554e-6
allele num: 115380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*177+40T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.625+40T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.625+40T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.625+40T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.625+40T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.610+40T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*177+40T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.231+40T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.761+40T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.625+40T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.756+40T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.391+40T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.256+40T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.625+40T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.625+40T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455023
  ensembl transcript: ENST00000421600
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000421600.2:c.84+40T>C
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.643+40T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*177+40T>C
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.574+40T>C
  variant of: http://identifiers.org/hgnc/9326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

6-32125538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125538
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 32125538
    reference: chr 6
allele count: 3
allele frequency: 2.603127223504504e-5
allele num: 115246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000493548
  gene symbol: PPT2
  hgvsc: ENST00000493548.1:n.761+41C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000415350
  ensembl transcript: ENST00000437001
  gene symbol: PPT2
  hgvsc: ENST00000437001.2:c.256+41C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000478521
  gene symbol: PPT2
  hgvsc: ENST00000478521.1:n.574+41C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000378894
  ensembl transcript: ENST00000395523
  gene symbol: PPT2
  hgvsc: ENST00000395523.1:c.625+41C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364279
  ensembl transcript: ENST00000375137
  gene symbol: PPT2
  hgvsc: ENST00000375137.2:c.625+41C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000364285
  ensembl transcript: ENST00000375143
  gene symbol: PPT2
  hgvsc: ENST00000375143.2:c.625+41C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000457534
  ensembl transcript: ENST00000422437
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000422437.1:c.625+41C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000320528
  ensembl transcript: ENST00000324816
  gene symbol: PPT2
  hgvsc: ENST00000324816.6:c.625+41C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455087
  ensembl transcript: ENST00000428388
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000428388.2:c.625+41C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000455023
  ensembl transcript: ENST00000421600
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000421600.2:c.84+41C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000463570
  ensembl transcript: ENST00000585246
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000585246.1:c.*177+41C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000453656
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000453656.2:n.756+41C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000354608
  ensembl transcript: ENST00000361568
  gene symbol: PPT2
  hgvsc: ENST00000361568.2:c.643+41C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000409877
  ensembl transcript: ENST00000424499
  gene symbol: PPT2
  hgvsc: ENST00000424499.1:c.391+41C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000412381
  ensembl transcript: ENST00000445576
  gene symbol: PPT2
  hgvsc: ENST00000445576.2:c.625+41C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl transcript: ENST00000479001
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000479001.2:n.610+41C>T
  variant of: http://identifiers.org/hgnc/48343
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl transcript: ENST00000495908
  gene symbol: PPT2
  hgvsc: ENST00000495908.1:n.231+41C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000221988
  ensembl protein: ENSP00000395456
  ensembl transcript: ENST00000436118
  gene symbol: PPT2
  hgvsc: ENST00000436118.2:c.*177+41C>T
  variant of: http://identifiers.org/hgnc/9326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000258388
  ensembl protein: ENSP00000461909
  ensembl transcript: ENST00000583227
  gene symbol: PPT2-EGFL8
  hgvsc: ENST00000583227.1:c.*177+41C>T
  variant of: http://identifiers.org/hgnc/48343
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

6-32125548-CTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 32125548
    reference: chr 6
allele count: 1
allele frequency: 8.709132396230688e-6
allele num: 114822
alternate allele: C
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: CTA

GenotypeDepth
all individuals: 1833
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 792
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2771
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5808
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1247
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 789
bin: 9.75e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 4281
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12511
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9327
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 398
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6416
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13318
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6553
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4215
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21901
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 14037
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3544
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2389
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4667
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.909e0

QD
type: SiteQuality
SIO_000300: 1.08e1

VQSLOD
type: SiteQuality
SIO_000300: -2.491e0

DP
type: SiteQuality
SIO_000300: 2.30161e6

MQRankSum
type: SiteQuality
SIO_000300: -5.47e-1

FS
type: SiteQuality
SIO_000300: 7.94e-1

MQ
type: SiteQuality
SIO_000300: 5.85e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

GenotypeDepth
all individuals: 5810
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12512
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4281
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2771
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 788
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 584
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 283
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 398
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 792
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9325
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6416
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13321
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1247
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1833
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21900
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4214
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6553
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2389
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4667
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3544
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14043
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.607e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.005e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.984e0

FS
type: SiteQuality
SIO_000300: 4.091e0

MQ
type: SiteQuality
SIO_000300: 5.852e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.049e0

DP
type: SiteQuality
SIO_000300: 2.301643e6

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

GenotypeDepth
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1833
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2770
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6416
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4281
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9324
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 398
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12511
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 792
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 792
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1247
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13326
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5809
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2389
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 14044
bin: 6.25e1
variant carriers: 0

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

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

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

South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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East Asian
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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DP
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SIO_000300: 2.301757e6

GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 11574
num of homozygotes: 0

South Asian
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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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DP
type: SiteQuality
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BaseQRankSum
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FS
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -4.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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African
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European (Finnish)
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East Asian
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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

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

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

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

European (Non-Finnish)
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allele num: 66730
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.183137525915688e-4
allele num: 11576
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 2.302592e6

MQ
type: SiteQuality
SIO_000300: 5.995e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.628e1

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeDepth
all individuals: 1500
bin: 7.25e1
variant carriers: 1241

GenotypeDepth
all individuals: 4797
bin: 2.25e1
variant carriers: 16

GenotypeDepth
all individuals: 6738
bin: 3.75e1
variant carriers: 112

GenotypeDepth
all individuals: 10204
bin: 3.25e1
variant carriers: 69

GenotypeDepth
all individuals: 6793
bin: 9.75e1
variant carriers: 6409

GenotypeDepth
all individuals: 11851
bin: 2.75e1
variant carriers: 39

GenotypeDepth
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1448
bin: 6.25e1
variant carriers: 917

GenotypeDepth
all individuals: 1472
bin: 7.75e1
variant carriers: 1312

GenotypeDepth
all individuals: 1353
bin: 9.25e1
variant carriers: 1281

GenotypeDepth
all individuals: 1441
bin: 5.75e1
variant carriers: 696

GenotypeDepth
all individuals: 1581
bin: 8.25e1
variant carriers: 1448

GenotypeDepth
all individuals: 1398
bin: 8.75e1
variant carriers: 1324

GenotypeQuality
all individuals: 3816
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1754
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5730
bin: 6.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2528
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 13038
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variant carriers: 1

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 2833
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variant carriers: 2

GenotypeQuality
all individuals: 3295
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variant carriers: 5

GenotypeQuality
all individuals: 27583
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variant carriers: 16944

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 127
allele frequency: 1.398678414096916e-1
allele num: 908
num of homozygotes: 9

European (Non-Finnish)
type: Population
allele count: 9015
allele frequency: 1.351169064748201e-1
allele num: 66720
num of homozygotes: 648

African
type: Population
allele count: 1008
allele frequency: 9.696036937283571e-2
allele num: 10396
num of homozygotes: 39

South Asian
type: Population
allele count: 1456
allele frequency: 8.822103732428502e-2
allele num: 16504
num of homozygotes: 66

Latino
type: Population
allele count: 3847
allele frequency: 3.327854671280277e-1
allele num: 11560
num of homozygotes: 680

European (Finnish)
type: Population
allele count: 1594
allele frequency: 2.41295791704511e-1
allele num: 6606
num of homozygotes: 195

East Asian
type: Population
allele count: 1757
allele frequency: 2.034035656401945e-1
allele num: 8638
num of homozygotes: 196

QD
type: SiteQuality
SIO_000300: 1.61e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.33e0

DP
type: SiteQuality
SIO_000300: 3.13131e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.45e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

GenotypeDepth
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1959
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5719
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9360
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 215
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15772
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5648
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1085
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variant carriers: 0

GenotypeDepth
all individuals: 3391
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 366
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 487
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 737
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variant carriers: 0

GenotypeDepth
all individuals: 254
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

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

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3846
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 3603
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 5298
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variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 4700
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variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15760
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7804
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.131e0

VQSLOD
type: SiteQuality
SIO_000300: 6.98e-1

DP
type: SiteQuality
SIO_000300: 2.252758e6

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.45e-1

FS
type: SiteQuality
SIO_000300: 3.895e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.284e1

GenotypeDepth
all individuals: 215
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5660
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5718
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14076
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1959
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variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 487
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variant carriers: 0

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

GenotypeDepth
all individuals: 15746
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3391
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9357
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 736
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17136
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7785
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variant carriers: 0

GenotypeQuality
all individuals: 3843
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3603
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5297
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 15756
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4698
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999040307101727e-5
allele num: 66688
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.856e0

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.342e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

DP
type: SiteQuality
SIO_000300: 2.252008e6

QD
type: SiteQuality
SIO_000300: 1.195e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1957
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 140
bin: 8.75e1
variant carriers: 5

GenotypeDepth
all individuals: 5653
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 9.25e1
variant carriers: 5

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

GenotypeDepth
all individuals: 220
bin: 8.25e1
variant carriers: 6

GenotypeDepth
all individuals: 3389
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 0
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variant carriers: 0

GenotypeDepth
all individuals: 15729
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 496
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variant carriers: 12

GenotypeDepth
all individuals: 5703
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variant carriers: 1

GenotypeDepth
all individuals: 746
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variant carriers: 12

GenotypeDepth
all individuals: 9339
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variant carriers: 0

GenotypeDepth
all individuals: 373
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variant carriers: 5

GenotypeDepth
all individuals: 260
bin: 7.75e1
variant carriers: 8

GenotypeDepth
all individuals: 1085
bin: 5.75e1
variant carriers: 3

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

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

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 3831
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variant carriers: 0

GenotypeQuality
all individuals: 4690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 3599
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7784
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17128
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15800
bin: 9.75e1
variant carriers: 87

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5291
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 84
allele frequency: 5.087209302325582e-3
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 5.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.36e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

DP
type: SiteQuality
SIO_000300: 2.255571e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

GenotypeDepth
all individuals: 9350
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5666
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variant carriers: 0

GenotypeDepth
all individuals: 0
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GenotypeDepth
all individuals: 214
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GenotypeDepth
all individuals: 1293
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GenotypeDepth
all individuals: 252
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GenotypeDepth
all individuals: 733
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GenotypeDepth
all individuals: 18
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variant carriers: 0

GenotypeDepth
all individuals: 14079
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GenotypeDepth
all individuals: 1956
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variant carriers: 0

GenotypeDepth
all individuals: 44
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GenotypeDepth
all individuals: 484
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GenotypeDepth
all individuals: 133
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GenotypeDepth
all individuals: 366
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GenotypeDepth
all individuals: 15754
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GenotypeDepth
all individuals: 135
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variant carriers: 0

GenotypeDepth
all individuals: 1084
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variant carriers: 0

GenotypeQuality
all individuals: 4692
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 7789
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GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 3606
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 3836
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GenotypeQuality
all individuals: 2468
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17163
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15729
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -8.326e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 3.368e0

MQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

MQ
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: -1.82e-1

BaseQRankSum
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SIO_000300: 1.91e0

QD
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DP
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GenotypeDepth
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variant carriers: 0

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

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

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

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

Latino
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num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

MQRankSum
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MQ
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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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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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SIO_000300: 1.28e0

GenotypeDepth
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variant carriers: 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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 63694
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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DP
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SIO_000300: 2.382456e6

MQ
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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SIO_000300: 9.330500000000001e1

QD
type: SiteQuality
SIO_000300: 9.1e-1

GenotypeDepth
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variant carriers: 30

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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GenotypeDepth
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variant carriers: 80

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 582

Latino
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allele count: 21
allele frequency: 1.823233200208369e-3
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
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allele count: 617
allele frequency: 9.405201060943265e-3
allele num: 65602
num of homozygotes: 0

East Asian
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allele frequency: 3.489995346672871e-3
allele num: 8596
num of homozygotes: 0

African
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allele frequency: 1.090836969456565e-2
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Other
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allele count: 18
allele frequency: 2.027027027027027e-2
allele num: 888
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European (Finnish)
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allele count: 248
allele frequency: 3.896920175989944e-2
allele num: 6364
num of homozygotes: 0

South Asian
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allele count: 8
allele frequency: 4.845548152634767e-4
allele num: 16510
num of homozygotes: 0

MQ
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SIO_000300: 5.94e1

BaseQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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DP
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.513178481165002e-5
allele num: 66472
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East Asian
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Other
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allele frequency: 0.0e0
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African
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South Asian
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Latino
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allele frequency: 0.0e0
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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MQ
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 2
allele frequency: 2.31696014828545e-4
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.56433463058497e-4
allele num: 66294
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

Other
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allele frequency: 1.11358574610245e-3
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African
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allele count: 2
allele frequency: 1.95160031225605e-4
allele num: 10248
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European (Finnish)
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allele count: 5
allele frequency: 7.631257631257631e-4
allele num: 6552
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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QD
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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European (Non-Finnish)
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African
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East Asian
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FS
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MQ
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QD
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MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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MQ
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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African
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DP
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ClippingRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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South Asian
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FS
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MQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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Other
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South Asian
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FS
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MQ
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VQSLOD
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QD
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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European (Finnish)
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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South Asian
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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DP
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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QD
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FS
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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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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Other
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South Asian
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Latino
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African
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European (Finnish)
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East Asian
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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DP
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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African
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South Asian
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Latino
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QD
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FS
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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Other
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European (Finnish)
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Latino
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South Asian
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FS
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InbreedingCoeff
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QD
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MQ
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DP
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MQRankSum
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VQSLOD
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ReadPosRankSum
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Other
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South Asian
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European (Non-Finnish)
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African
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East Asian
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ReadPosRankSum
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FS
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DP
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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African
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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DP
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ClippingRankSum
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.755413245411026e-5
allele num: 63086
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.106e0

InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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DP
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SIO_000300: 1.850542e6

MQRankSum
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SIO_000300: 1.81e-1

BaseQRankSum
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SIO_000300: -4.465e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

GenotypeDepth
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bin: 2.5e0
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 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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GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.58378207158695e-5
allele num: 63140
num of homozygotes: 0

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

DP
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SIO_000300: 1.868462e6

VQSLOD
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InbreedingCoeff
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SIO_000300: 3.1e-3

ReadPosRankSum
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SIO_000300: 2.0e-2

MQ
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SIO_000300: 6.0e1

FS
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SIO_000300: 8.189e0

ClippingRankSum
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 1.27e0

QD
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SIO_000300: 2.87e1

BaseQRankSum
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SIO_000300: -2.772e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.750437521876094e-5
allele num: 11428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.470294841846077e-5
allele num: 63356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

FS
type: SiteQuality
SIO_000300: 4.503e0

DP
type: SiteQuality
SIO_000300: 1.894765e6

BaseQRankSum
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InbreedingCoeff
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SIO_000300: 2.6e-3

ReadPosRankSum
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SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.239e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.091464745688714e-4
allele num: 9162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63358
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: 4.29e-1

MQ
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SIO_000300: 5.898e1

ReadPosRankSum
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SIO_000300: 8.84e-1

DP
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SIO_000300: 1.895333e6

QD
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SIO_000300: 1.39e1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57693884631154e-5
allele num: 63414
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.09051254089422e-4
allele num: 9170
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.151574803149606e-5
allele num: 16256
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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DP
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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 5.999999999999999e-4

VQSLOD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2758
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

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

European (Finnish)
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Latino
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East Asian
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African
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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QD
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FS
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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Other
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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FS
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VQSLOD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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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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FS
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VQSLOD
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QD
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DP
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576491360827343e-5
allele num: 63432
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.90039e6

VQSLOD
type: SiteQuality
SIO_000300: -1.898e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 1.178e1

MQ
type: SiteQuality
SIO_000300: 5.831e1

FS
type: SiteQuality
SIO_000300: 3.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.386e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000258388
ensembl protein: ENSP00000461909
ensembl transcript: ENST00000583227
gene symbol: PPT2-EGFL8
hgvsc: ENST00000583227.1:c.*177G>A
variant of: http://identifiers.org/hgnc/48343

GenotypeDepth
all individuals: 5215
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 953
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1504
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17754
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 881
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 658
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13756
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2247
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10667
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3406
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1434
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2750
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8503
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3298
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3789
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9749
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1988
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25953
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577784790154623e-5
allele num: 63380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.897113e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.422e0

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

FS
type: SiteQuality
SIO_000300: 9.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.335e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.398e0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

GenotypeDepth
all individuals: 961
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 309
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3402
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17730
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1504
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5216
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13666
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2249
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10660
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 659
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 881
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9746
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 442
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3293
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1989
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25847
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.231830500123183e-4
allele num: 16236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 1.896156e6

QD
type: SiteQuality
SIO_000300: 1.31e1

FS
type: SiteQuality
SIO_000300: 9.576000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: -5.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

GenotypeDepth
all individuals: 2248
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5182
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10516
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1964
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1871
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11090
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17086
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3398
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 979
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1507
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 214
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 658
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2709
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9740
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.073803348266918e-4
allele num: 8482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63140
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

FS
type: SiteQuality
SIO_000300: 4.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

DP
type: SiteQuality
SIO_000300: 1.865444e6

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

QD
type: SiteQuality
SIO_000300: 1.787e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

GenotypeDepth
all individuals: 2248
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 979
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1964
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1871
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1507
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 461
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 658
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10516
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17086
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 214
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3398
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2709
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3696
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1060
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9740
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1977
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1426
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.776549060909251e-5
allele num: 11394
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

DP
type: SiteQuality
SIO_000300: 1.865444e6

QD
type: SiteQuality
SIO_000300: 1.787e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

FS
type: SiteQuality
SIO_000300: 4.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: 6.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

GenotypeDepth
all individuals: 880
bin: 5.75e1
variant carriers: 1

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2527
bin: 1.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6158
bin: 1.75e1
variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9334
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 567
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variant carriers: 0

GenotypeDepth
all individuals: 141
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variant carriers: 0

GenotypeDepth
all individuals: 68
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variant carriers: 0

GenotypeDepth
all individuals: 658
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variant carriers: 0

GenotypeDepth
all individuals: 85
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variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
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variant carriers: 0

GenotypeQuality
all individuals: 2620
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2418
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6869
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2687
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16223
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9733
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2965
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.188884762965714e-5
allele num: 16158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62922
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.476e0

QD
type: SiteQuality
SIO_000300: 1.534e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.808104e6

GenotypeDepth
all individuals: 567
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6323
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 619
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 880
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 997
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 360
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 658
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5068
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3383
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9190
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2522
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13443
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2245
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11003
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2538
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2917
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2666
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1041
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1605
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13929
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3522
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9724
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.772814051164567e-5
allele num: 62856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.289e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.55e-1

DP
type: SiteQuality
SIO_000300: 1.801117e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.827e0

QD
type: SiteQuality
SIO_000300: 9.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.858e-1