14-24567743-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567743
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567743
    reference: chr 14
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.556A>G
  hgvsp: ENSP00000453444.1:p.Ile186Val
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1111A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.118A>G
  hgvsp: ENSP00000441826.2:p.Ile40Val
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1026A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.520A>G
  hgvsp: ENSP00000216780.4:p.Ile174Val
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15659T>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.118A>G
  hgvsp: ENSP00000453751.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.520A>G
  hgvsp: ENSP00000380171.4:p.Ile174Val
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.118A>G
  hgvsp: ENSP00000453656.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.118A>G
  hgvsp: ENSP00000453998.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13789T>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.23A>G
  hgvsp: ENSP00000453528.1:p.Ile9Val
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454020
  ensembl transcript: ENST00000560106
  gene symbol: PCK2
  hgvsc: ENST00000560106.1:c.*471A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.118A>G
  hgvsp: ENSP00000454011.1:p.Ile40Val
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile174Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

14-24567746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567746
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567746
    reference: chr 14
allele count: 7
allele frequency: 5.812022583859183e-5
allele num: 120440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.121G>A
  hgvsp: ENSP00000453751.1:p.Gly41Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.559G>A
  hgvsp: ENSP00000453444.1:p.Gly187Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.121G>A
  hgvsp: ENSP00000453656.1:p.Gly41Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.121G>A
  hgvsp: ENSP00000441826.2:p.Gly41Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1029G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454020
  ensembl transcript: ENST00000560106
  gene symbol: PCK2
  hgvsc: ENST00000560106.1:c.*474G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.121G>A
  hgvsp: ENSP00000454011.1:p.Gly41Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.26G>A
  hgvsp: ENSP00000453528.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.523G>A
  hgvsp: ENSP00000380171.4:p.Gly175Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.121G>A
  hgvsp: ENSP00000453998.1:p.Gly41Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.523G>A
  hgvsp: ENSP00000216780.4:p.Gly175Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13792C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1114G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15662C>T
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly175Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

14-24567757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567757
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567757
    reference: chr 14
allele count: 2
allele frequency: 1.658264791721942e-5
allele num: 120608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.37C>T
  hgvsp: ENST00000559503.1:c.37C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13803G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1125C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454020
  ensembl transcript: ENST00000560106
  gene symbol: PCK2
  hgvsc: ENST00000560106.1:c.*485C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.132C>T
  hgvsp: ENST00000561286.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.132C>T
  hgvsp: ENST00000545054.2:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1040C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.570C>T
  hgvsp: ENST00000559250.1:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.534C>T
  hgvsp: ENST00000216780.4:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.132C>T
  hgvsp: ENST00000558096.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.132C>T
  hgvsp: ENST00000559837.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15673G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.132C>T
  hgvsp: ENST00000560736.1:c.132C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.534C>T
  hgvsp: ENST00000396973.4:c.534C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu178Leu
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: FS

14-24567759-C-CTGACTCAGCCTATGTGGTGGCAAGCATGCGTATTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567759
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567794
    reference: chr 14
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: CTGACTCAGCCTATGTGGTGGCAAGCATGCGTATTA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsp: ENSP00000453528.1:p.Arg28GlnfsTer11
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454020
  ensembl transcript: ENST00000560106
  gene symbol: PCK2
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsp: ENSP00000441826.2:p.Arg59GlnfsTer11
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsp: ENSP00000453998.1:p.Arg59GlnfsTer11
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsp: ENSP00000453656.1:p.Arg59GlnfsTer11
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsp: ENSP00000453444.1:p.Arg205GlnfsTer11
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsp: ENSP00000216780.4:p.Arg193GlnfsTer11
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsp: ENSP00000454011.1:p.Arg59GlnfsTer11
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsp: ENSP00000453751.1:p.Arg59GlnfsTer11
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsp: ENSP00000380171.4:p.Arg193GlnfsTer11
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25563
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg193GlnfsTer11
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-24567762-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567762
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567762
    reference: chr 14
allele count: 2
allele frequency: 1.657715005636231e-5
allele num: 120648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.137A>C
  hgvsp: ENSP00000441826.2:p.Asp46Ala
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454020
  ensembl transcript: ENST00000560106
  gene symbol: PCK2
  hgvsc: ENST00000560106.1:c.*490A>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13808T>G
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.137A>C
  hgvsp: ENSP00000453998.1:p.Asp46Ala
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.42A>C
  hgvsp: ENSP00000453528.1:p.Asp15Ala
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.137A>C
  hgvsp: ENSP00000453656.1:p.Asp46Ala
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.575A>C
  hgvsp: ENSP00000453444.1:p.Asp192Ala
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1130A>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.137A>C
  hgvsp: ENSP00000454011.1:p.Asp46Ala
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.137A>C
  hgvsp: ENSP00000453751.1:p.Asp46Ala
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.539A>C
  hgvsp: ENSP00000216780.4:p.Asp180Ala
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.539A>C
  hgvsp: ENSP00000380171.4:p.Asp180Ala
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15678T>G
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1045A>C
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25604
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp180Ala
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-24567778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567778
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567778
    reference: chr 14
allele count: 1
allele frequency: 8.278145695364238e-6
allele num: 120800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.153G>A
  hgvsp: ENST00000560736.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13824C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454020
  ensembl transcript: ENST00000560106
  gene symbol: PCK2
  hgvsc: ENST00000560106.1:c.*506G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.153G>A
  hgvsp: ENST00000559837.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.153G>A
  hgvsp: ENST00000545054.2:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.153G>A
  hgvsp: ENST00000561286.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.58G>A
  hgvsp: ENST00000559503.1:c.58G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.555G>A
  hgvsp: ENST00000216780.4:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.555G>A
  hgvsp: ENST00000396973.4:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1061G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1146G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.153G>A
  hgvsp: ENST00000558096.1:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15694C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.591G>A
  hgvsp: ENST00000559250.1:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25851
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val185Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

14-24567788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567788
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567788
    reference: chr 14
allele count: 3
allele frequency: 2.482334055968359e-5
allele num: 120854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.163C>T
  hgvsp: ENSP00000453656.1:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.601C>T
  hgvsp: ENSP00000453444.1:p.Arg201Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454020
  ensembl transcript: ENST00000560106
  gene symbol: PCK2
  hgvsc: ENST00000560106.1:c.*516C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.163C>T
  hgvsp: ENSP00000441826.2:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.565C>T
  hgvsp: ENSP00000216780.4:p.Arg189Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.565C>T
  hgvsp: ENSP00000380171.4:p.Arg189Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1071C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.163C>T
  hgvsp: ENSP00000453998.1:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.68C>T
  hgvsp: ENSP00000453528.1:p.Arg24Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.163C>T
  hgvsp: ENSP00000454011.1:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1156C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15704G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13834G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.163C>T
  hgvsp: ENSP00000453751.1:p.Arg55Cys
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25991
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg189Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

14-24567789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567789
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567789
    reference: chr 14
allele count: 2
allele frequency: 1.65461555007694e-5
allele num: 120874
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.602G>A
  hgvsp: ENSP00000453444.1:p.Arg201His
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1157G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454020
  ensembl transcript: ENST00000560106
  gene symbol: PCK2
  hgvsc: ENST00000560106.1:c.*517G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.566G>A
  hgvsp: ENSP00000380171.4:p.Arg189His
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1072G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.164G>A
  hgvsp: ENSP00000441826.2:p.Arg55His
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.164G>A
  hgvsp: ENSP00000453751.1:p.Arg55His
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.164G>A
  hgvsp: ENSP00000453998.1:p.Arg55His
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.69G>A
  hgvsp: ENSP00000453528.1:p.Arg24His
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.566G>A
  hgvsp: ENSP00000216780.4:p.Arg189His
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13835C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.164G>A
  hgvsp: ENSP00000454011.1:p.Arg55His
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15705C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.164G>A
  hgvsp: ENSP00000453656.1:p.Arg55His
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26028
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg189His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-24567791-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567791
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567791
    reference: chr 14
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1159A>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.71A>T
  hgvsp: ENSP00000453528.1:p.Ile25Phe
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.166A>T
  hgvsp: ENSP00000441826.2:p.Ile56Phe
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.166A>T
  hgvsp: ENSP00000454011.1:p.Ile56Phe
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1074A>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13837T>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454020
  ensembl transcript: ENST00000560106
  gene symbol: PCK2
  hgvsc: ENST00000560106.1:c.*519A>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.166A>T
  hgvsp: ENSP00000453656.1:p.Ile56Phe
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.568A>T
  hgvsp: ENSP00000380171.4:p.Ile190Phe
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.568A>T
  hgvsp: ENSP00000216780.4:p.Ile190Phe
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.166A>T
  hgvsp: ENSP00000453998.1:p.Ile56Phe
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.604A>T
  hgvsp: ENSP00000453444.1:p.Ile202Phe
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15707T>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.166A>T
  hgvsp: ENSP00000453751.1:p.Ile56Phe
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile190Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

14-24567800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567800
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567800
    reference: chr 14
allele count: 6
allele frequency: 4.965407659968883e-5
allele num: 120836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.613C>T
  hgvsp: ENSP00000453444.1:p.Arg205Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.175C>T
  hgvsp: ENSP00000453656.1:p.Arg59Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.80C>T
  hgvsp: ENSP00000453528.1:p.Arg28Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.175C>T
  hgvsp: ENSP00000441826.2:p.Arg59Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13846G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.175C>T
  hgvsp: ENSP00000453998.1:p.Arg59Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.577C>T
  hgvsp: ENSP00000380171.4:p.Arg193Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.577C>T
  hgvsp: ENSP00000216780.4:p.Arg193Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454020
  ensembl transcript: ENST00000560106
  gene symbol: PCK2
  hgvsc: ENST00000560106.1:c.*528C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15716G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.175C>T
  hgvsp: ENSP00000453751.1:p.Arg59Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1083C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1168C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.175C>T
  hgvsp: ENSP00000454011.1:p.Arg59Ter
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26107
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg193Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

14-24567801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567801
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567801
    reference: chr 14
allele count: 6
allele frequency: 4.964339494630239e-5
allele num: 120862
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15717C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1084G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.81G>A
  hgvsp: ENSP00000453528.1:p.Arg28Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1169G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.176G>A
  hgvsp: ENSP00000454011.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.176G>A
  hgvsp: ENSP00000453656.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.578G>A
  hgvsp: ENSP00000380171.4:p.Arg193Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.176G>A
  hgvsp: ENSP00000441826.2:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.578G>A
  hgvsp: ENSP00000216780.4:p.Arg193Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.176G>A
  hgvsp: ENSP00000453751.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13847C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.614G>A
  hgvsp: ENSP00000453444.1:p.Arg205Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.176G>A
  hgvsp: ENSP00000453998.1:p.Arg59Gln
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg193Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

14-24567809-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567809
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567809
    reference: chr 14
allele count: 7
allele frequency: 5.79287972326586e-5
allele num: 120838
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15725T>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.184A>T
  hgvsp: ENSP00000441826.2:p.Thr62Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.89A>T
  hgvsp: ENSP00000453528.1:p.Thr31Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.184A>T
  hgvsp: ENSP00000453656.1:p.Thr62Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.184A>T
  hgvsp: ENSP00000453998.1:p.Thr62Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.586A>T
  hgvsp: ENSP00000216780.4:p.Thr196Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.184A>T
  hgvsp: ENSP00000454011.1:p.Thr62Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.586A>T
  hgvsp: ENSP00000380171.4:p.Thr196Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.622A>T
  hgvsp: ENSP00000453444.1:p.Thr208Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1177A>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.184A>T
  hgvsp: ENSP00000453751.1:p.Thr62Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13855T>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1092A>T
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26589
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr196Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

14-24567814-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567814
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567814
    reference: chr 14
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13860A>G
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.189T>C
  hgvsp: ENST00000559837.1:c.189T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.189T>C
  hgvsp: ENST00000558096.1:c.189T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.189T>C
  hgvsp: ENST00000560736.1:c.189T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1182T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.627T>C
  hgvsp: ENST00000559250.1:c.627T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.591T>C
  hgvsp: ENST00000396973.4:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1097T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.189T>C
  hgvsp: ENST00000561286.1:c.189T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.94T>C
  hgvsp: ENST00000559503.1:c.94T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.591T>C
  hgvsp: ENST00000216780.4:c.591T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.189T>C
  hgvsp: ENST00000545054.2:c.189T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15730A>G
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro197Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

14-24567829-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567829
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567829
    reference: chr 14
allele count: 2
allele frequency: 1.657110661849998e-5
allele num: 120692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1112G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1197G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15745C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.642G>A
  hgvsp: ENST00000559250.1:c.642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.606G>A
  hgvsp: ENST00000396973.4:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.109G>A
  hgvsp: ENST00000559503.1:c.109G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.204G>A
  hgvsp: ENST00000545054.2:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13875C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.606G>A
  hgvsp: ENST00000216780.4:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.204G>A
  hgvsp: ENST00000558096.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.204G>A
  hgvsp: ENST00000561286.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.204G>A
  hgvsp: ENST00000559837.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.204G>A
  hgvsp: ENST00000560736.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu202Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

14-24567845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567845
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567845
    reference: chr 14
allele count: 1
allele frequency: 8.305096006909839e-6
allele num: 120408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1128G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13891C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.220G>A
  hgvsp: ENSP00000453751.1:p.Val74Ile
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.220G>A
  hgvsp: ENSP00000453656.1:p.Val74Ile
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.220G>A
  hgvsp: ENSP00000453998.1:p.Val74Ile
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1213G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15761C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.125G>A
  hgvsp: ENSP00000453528.1:p.Val43Ile
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.622G>A
  hgvsp: ENSP00000216780.4:p.Val208Ile
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.622G>A
  hgvsp: ENSP00000380171.4:p.Val208Ile
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.220G>A
  hgvsp: ENSP00000441826.2:p.Val74Ile
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.220G>A
  hgvsp: ENSP00000454011.1:p.Val74Ile
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.658G>A
  hgvsp: ENSP00000453444.1:p.Val220Ile
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5517
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val208Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

14-24567852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567852
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567852
    reference: chr 14
allele count: 1
allele frequency: 8.32514693884347e-6
allele num: 120118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.227G>A
  hgvsp: ENSP00000441826.2:p.Cys76Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13898C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1220G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.227G>A
  hgvsp: ENSP00000453998.1:p.Cys76Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.629G>A
  hgvsp: ENSP00000216780.4:p.Cys210Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.665G>A
  hgvsp: ENSP00000453444.1:p.Cys222Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.629G>A
  hgvsp: ENSP00000380171.4:p.Cys210Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.227G>A
  hgvsp: ENSP00000453751.1:p.Cys76Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.227G>A
  hgvsp: ENSP00000453656.1:p.Cys76Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.227G>A
  hgvsp: ENSP00000454011.1:p.Cys76Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15768C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.132G>A
  hgvsp: ENSP00000453528.1:p.Cys45Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1135G>A
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys210Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

14-24567863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567863
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567863
    reference: chr 14
allele count: 4
allele frequency: 3.346608212576554e-5
allele num: 119524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.640G>A
  hgvsp: ENSP00000380171.4:p.Val214Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.676G>A
  hgvsp: ENSP00000453444.1:p.Val226Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15779C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.143G>A
  hgvsp: ENSP00000453528.1:p.Val49Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.238G>A
  hgvsp: ENSP00000453656.1:p.Val80Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1146G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.238G>A
  hgvsp: ENSP00000453751.1:p.Val80Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.640G>A
  hgvsp: ENSP00000216780.4:p.Val214Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.238G>A
  hgvsp: ENSP00000453998.1:p.Val80Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13909C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.238G>A
  hgvsp: ENSP00000441826.2:p.Val80Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1231G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.238G>A
  hgvsp: ENSP00000454011.1:p.Val80Met
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25502
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val214Met
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

14-24567867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567867
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567867
    reference: chr 14
allele count: 17
allele frequency: 1.427228155013768e-4
allele num: 119112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.644G>A
  hgvsp: ENSP00000380171.4:p.Gly215Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1235G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.680G>A
  hgvsp: ENSP00000453444.1:p.Gly227Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.242G>A
  hgvsp: ENSP00000453751.1:p.Gly81Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15783C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.644G>A
  hgvsp: ENSP00000216780.4:p.Gly215Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.242G>A
  hgvsp: ENSP00000453998.1:p.Gly81Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.242G>A
  hgvsp: ENSP00000441826.2:p.Gly81Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.242G>A
  hgvsp: ENSP00000453656.1:p.Gly81Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.242G>A
  hgvsp: ENSP00000454011.1:p.Gly81Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13913C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.147G>A
  hgvsp: ENSP00000453528.1:p.Gly50Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1150G>A
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25123
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly215Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/14-24567870-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567870
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567870
    reference: chr 14
allele count: 1
allele frequency: 8.411560849231184e-6
allele num: 118884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.245A>C
  hgvsp: ENSP00000453656.1:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.245A>C
  hgvsp: ENSP00000453751.1:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.245A>C
  hgvsp: ENSP00000453998.1:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15786T>G
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.150A>C
  hgvsp: ENSP00000453528.1:p.Gln51Pro
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.245A>C
  hgvsp: ENSP00000441826.2:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.245A>C
  hgvsp: ENSP00000454011.1:p.Gln82Pro
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1153A>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.647A>C
  hgvsp: ENSP00000380171.4:p.Gln216Pro
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.683A>C
  hgvsp: ENSP00000453444.1:p.Gln228Pro
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13916T>G
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.647A>C
  hgvsp: ENSP00000216780.4:p.Gln216Pro
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1238A>C
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25129
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln216Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

14-24567870-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567870
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567870
    reference: chr 14
allele count: 1
allele frequency: 8.411560849231184e-6
allele num: 118884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.245A>G
  hgvsp: ENSP00000441826.2:p.Gln82Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.150A>G
  hgvsp: ENSP00000453528.1:p.Gln51Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.683A>G
  hgvsp: ENSP00000453444.1:p.Gln228Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.647A>G
  hgvsp: ENSP00000380171.4:p.Gln216Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1238A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.245A>G
  hgvsp: ENSP00000453751.1:p.Gln82Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.245A>G
  hgvsp: ENSP00000454011.1:p.Gln82Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15786T>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.245A>G
  hgvsp: ENSP00000453656.1:p.Gln82Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.647A>G
  hgvsp: ENSP00000216780.4:p.Gln216Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1153A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.245A>G
  hgvsp: ENSP00000453998.1:p.Gln82Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13916T>C
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln216Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

14-24567876-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567876
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567877
    reference: chr 14
allele count: 1
allele frequency: 8.436967416431838e-6
allele num: 118526
alternate allele: TG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.654dupG
  hgvsp: ENSP00000216780.4:p.Thr219AspfsTer58
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.690dupG
  hgvsp: ENSP00000453444.1:p.Thr231AspfsTer58
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.654dupG
  hgvsp: ENSP00000380171.4:p.Thr219AspfsTer58
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.252dupG
  hgvsp: ENSP00000441826.2:p.Thr85AspfsTer58
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.252dupG
  hgvsp: ENSP00000453751.1:p.Thr85AspfsTer?
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.252dupG
  hgvsp: ENSP00000453656.1:p.Thr85AspfsTer58
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.157dupG
  hgvsp: ENSP00000453528.1:p.Thr54AspfsTer58
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.252dupG
  hgvsp: ENSP00000454011.1:p.Thr85AspfsTer58
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15793dupC
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.252dupG
  hgvsp: ENSP00000453998.1:p.Thr85AspfsTer?
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1160dupG
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13923dupC
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1245dupG
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5185
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr219AspfsTer58
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

14-24567880-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567880
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567880
    reference: chr 14
allele count: 1
allele frequency: 8.468547813420954e-6
allele num: 118084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.255A>G
  hgvsp: ENST00000559837.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.255A>G
  hgvsp: ENST00000558096.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.160A>G
  hgvsp: ENST00000559503.1:c.160A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.693A>G
  hgvsp: ENST00000559250.1:c.693A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15796T>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13926T>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.255A>G
  hgvsp: ENST00000561286.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1248A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.255A>G
  hgvsp: ENST00000560736.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.657A>G
  hgvsp: ENST00000396973.4:c.657A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.657A>G
  hgvsp: ENST00000216780.4:c.657A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1163A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.255A>G
  hgvsp: ENST00000545054.2:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr219Thr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

14-24567882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567882
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567882
    reference: chr 14
allele count: 2
allele frequency: 1.696698225253656e-5
allele num: 117876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1165G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.257G>A
  hgvsp: ENSP00000453751.1:p.Gly86Glu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.257G>A
  hgvsp: ENSP00000453656.1:p.Gly86Glu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.695G>A
  hgvsp: ENSP00000453444.1:p.Gly232Glu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.257G>A
  hgvsp: ENSP00000454011.1:p.Gly86Glu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15798C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.257G>A
  hgvsp: ENSP00000453998.1:p.Gly86Glu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1250G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13928C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.659G>A
  hgvsp: ENSP00000216780.4:p.Gly220Glu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.659G>A
  hgvsp: ENSP00000380171.4:p.Gly220Glu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.257G>A
  hgvsp: ENSP00000441826.2:p.Gly86Glu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.162G>A
  hgvsp: ENSP00000453528.1:p.Gly55Glu
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24323
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly220Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-24567887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567887
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567887
    reference: chr 14
allele count: 5
allele frequency: 4.258871228769527e-5
allele num: 117402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15803C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.262G>A
  hgvsp: ENSP00000453656.1:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.664G>A
  hgvsp: ENSP00000380171.4:p.Gly222Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.664G>A
  hgvsp: ENSP00000216780.4:p.Gly222Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.167G>A
  hgvsp: ENSP00000453528.1:p.Gly57Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.262G>A
  hgvsp: ENSP00000453998.1:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.700G>A
  hgvsp: ENSP00000453444.1:p.Gly234Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.262G>A
  hgvsp: ENSP00000453751.1:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1255G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.262G>A
  hgvsp: ENSP00000454011.1:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13933C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.262G>A
  hgvsp: ENSP00000441826.2:p.Gly88Arg
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly222Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

14-24567889-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567889
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567889
    reference: chr 14
allele count: 1
allele frequency: 8.552125203112974e-6
allele num: 116930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13935A>G
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1255+2T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.167+2T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.664+2T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.262+2T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15805A>G
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.262+2T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.262+2T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.664+2T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.262+2T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.262+2T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+2T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.700+2T>C
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.664+2T>C
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

14-24567896-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567896
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567896
    reference: chr 14
allele count: 1
allele frequency: 8.674381082909734e-6
allele num: 115282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.262+9C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.664+9C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.262+9C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13942G>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15812G>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.262+9C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.167+9C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+9C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.262+9C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.262+9C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.700+9C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.664+9C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1255+9C>G
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21988
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

14-24567903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567903
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567903
    reference: chr 14
allele count: 6
allele frequency: 5.286623081396373e-5
allele num: 113494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.262+16G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+16G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.664+16G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.700+16G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.262+16G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1255+16G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.262+16G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.664+16G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.167+16G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.262+16G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.262+16G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13949C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15819C>T
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17792
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19431
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-24567915-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567915
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567915
    reference: chr 14
allele count: 1
allele frequency: 9.00835975785529e-6
allele num: 111008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.167+28A>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13961T>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.664+28A>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.262+28A>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+28A>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1255+28A>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15831T>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.700+28A>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.262+28A>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.262+28A>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.664+28A>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.262+28A>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.262+28A>T
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

14-24567920-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567920
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567920
    reference: chr 14
allele count: 7
allele frequency: 6.370818013032874e-5
allele num: 109876
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15836C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.262+33G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13966C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.262+33G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.167+33G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.700+33G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1255+33G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.664+33G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.262+33G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.262+33G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.664+33G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+33G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.262+33G>A
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11507
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20308
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9450
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

14-24567924-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567924
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567924
    reference: chr 14
allele count: 1
allele frequency: 9.267840593141798e-6
allele num: 107900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.262+37C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.700+37C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15840G>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.664+37C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.262+37C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.167+37C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+37C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.664+37C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.262+37C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.262+37C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13970G>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1255+37C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.262+37C>G
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

14-24567924-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567924
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567921
    reference: chr 14
allele count: 1
allele frequency: 9.267840593141798e-6
allele num: 107900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.262+41_262+43delCTT
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15843_-27-15841delAAG
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.664+41_664+43delCTT
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1255+41_1255+43delCTT
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.262+41_262+43delCTT
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.262+41_262+43delCTT
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.664+41_664+43delCTT
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.262+41_262+43delCTT
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+41_1170+43delCTT
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.700+41_700+43delCTT
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13973_-253-13971delAAG
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.167+41_167+43delCTT
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.262+41_262+43delCTT
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: CCTT
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

14-24567927-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567927
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567927
    reference: chr 14
allele count: 1
allele frequency: 9.340731192437744e-6
allele num: 107058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.262+40T>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.262+40T>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.700+40T>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1255+40T>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.167+40T>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+40T>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.664+40T>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.262+40T>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.262+40T>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15843A>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13973A>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.262+40T>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.664+40T>G
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20516
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

14-24567931-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24567931
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24567931
    reference: chr 14
allele count: 9
allele frequency: 8.664009703690868e-5
allele num: 103878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+44G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.262+44G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.262+44G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.262+44G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.664+44G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.262+44G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.262+44G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.167+44G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1255+44G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.664+44G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.700+44G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-27-15847C>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-13977C>A
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16104
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19512
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-24568215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568215
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568215
    reference: chr 14
allele count: 1
allele frequency: 8.932240027154009e-6
allele num: 111954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.168-43C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.263-43C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.263-43C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.665-43C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.665-43C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.263-43C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15716G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14261G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.701-43C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+328C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1256-43C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.263-43C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.263-43C>T
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

14-24568239-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568239
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568239
    reference: chr 14
allele count: 4
allele frequency: 3.519887363604365e-5
allele num: 113640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1256-19A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.263-19A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+352A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.263-19A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.263-19A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.665-19A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.701-19A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.263-19A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.168-19A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.263-19A>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15692T>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14285T>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.665-19A>G
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-24568248-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568248
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568248
    reference: chr 14
allele count: 1
allele frequency: 8.716268042674849e-6
allele num: 114728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+361T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.263-10T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.701-10T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.665-10T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.263-10T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.263-10T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.263-10T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1256-10T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.665-10T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.168-10T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.263-10T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15683A>G
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14294A>G
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/14-24568252-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568252
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568252
    reference: chr 14
allele count: 2
allele frequency: 1.736864958749457e-5
allele num: 115150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.263-6C>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15679G>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.263-6C>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.168-6C>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.263-6C>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1256-6C>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.665-6C>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.263-6C>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.701-6C>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+365C>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.665-6C>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.263-6C>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14298G>T
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.665-6C>A
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

14-24568260-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568260
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568260
    reference: chr 14
allele count: 1
allele frequency: 8.585164835164835e-6
allele num: 116480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.667G>T
  hgvsp: ENSP00000380171.4:p.Glu223Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.703G>T
  hgvsp: ENSP00000453444.1:p.Glu235Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.265G>T
  hgvsp: ENSP00000454011.1:p.Glu89Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+373G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.265G>T
  hgvsp: ENSP00000453751.1:p.Glu89Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.265G>T
  hgvsp: ENSP00000441826.2:p.Glu89Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.170G>T
  hgvsp: ENSP00000453528.1:p.Glu58Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.265G>T
  hgvsp: ENSP00000453656.1:p.Glu89Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.667G>T
  hgvsp: ENSP00000216780.4:p.Glu223Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.265G>T
  hgvsp: ENSP00000453998.1:p.Glu89Ter
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1258G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14306C>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15671C>A
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu223Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/14-24568271-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568271
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568271
    reference: chr 14
allele count: 1
allele frequency: 8.485362749257531e-6
allele num: 117850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1269C>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.276C>A
  hgvsp: ENSP00000453998.1:p.Ser92Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.714C>A
  hgvsp: ENSP00000453444.1:p.Ser238Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.678C>A
  hgvsp: ENSP00000216780.4:p.Ser226Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.276C>A
  hgvsp: ENSP00000453656.1:p.Ser92Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.276C>A
  hgvsp: ENSP00000441826.2:p.Ser92Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.678C>A
  hgvsp: ENSP00000380171.4:p.Ser226Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.276C>A
  hgvsp: ENSP00000454011.1:p.Ser92Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15660G>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.276C>A
  hgvsp: ENSP00000453751.1:p.Ser92Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.181C>A
  hgvsp: ENSP00000453528.1:p.Ser61Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14317G>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+384C>A
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29814
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser226Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

14-24568280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568280
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568280
    reference: chr 14
allele count: 3
allele frequency: 2.515132715169604e-5
allele num: 119278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.687G>A
  hgvsp: ENST00000396973.4:c.687G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1278G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.285G>A
  hgvsp: ENST00000545054.2:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.285G>A
  hgvsp: ENST00000560736.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.285G>A
  hgvsp: ENST00000559837.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.190G>A
  hgvsp: ENST00000559503.1:c.190G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.285G>A
  hgvsp: ENST00000558096.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15651C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.285G>A
  hgvsp: ENST00000561286.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+393G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14326C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.687G>A
  hgvsp: ENST00000216780.4:c.687G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.723G>A
  hgvsp: ENST00000559250.1:c.723G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro229Pro
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

14-24568287-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568287
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568287
    reference: chr 14
allele count: 13
allele frequency: 1.082864092226702e-4
allele num: 120052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.292C>T
  hgvsp: ENSP00000454011.1:p.Pro98Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14333G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.694C>T
  hgvsp: ENSP00000380171.4:p.Pro232Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.694C>T
  hgvsp: ENSP00000216780.4:p.Pro232Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.292C>T
  hgvsp: ENSP00000453751.1:p.Pro98Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.292C>T
  hgvsp: ENSP00000453998.1:p.Pro98Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.292C>T
  hgvsp: ENSP00000453656.1:p.Pro98Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+400C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.292C>T
  hgvsp: ENSP00000441826.2:p.Pro98Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.730C>T
  hgvsp: ENSP00000453444.1:p.Pro244Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15644G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.197C>T
  hgvsp: ENSP00000453528.1:p.Pro67Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1285C>T
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14035
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
hgvs: p.Pro232Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

14-24568298-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568298
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568298
    reference: chr 14
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.705C>G
  hgvsp: ENST00000396973.4:c.705C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+411C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.303C>G
  hgvsp: ENST00000560736.1:c.303C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.705C>G
  hgvsp: ENST00000216780.4:c.705C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.303C>G
  hgvsp: ENST00000561286.1:c.303C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.303C>G
  hgvsp: ENST00000558096.1:c.303C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.741C>G
  hgvsp: ENST00000559250.1:c.741C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.208C>G
  hgvsp: ENST00000559503.1:c.208C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.303C>G
  hgvsp: ENST00000545054.2:c.303C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.303C>G
  hgvsp: ENST00000559837.1:c.303C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14344G>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15633G>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1296C>G
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11479
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr235Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

14-24568300-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568300
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568301
    reference: chr 14
allele count: 51
allele frequency: 4.230539518216205e-4
allele num: 120552
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.305_306insA
  hgvsp: ENSP00000453998.1:p.Ile103AspfsTer?
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1298_1299insA
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+413_1170+414insA
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.305_306insA
  hgvsp: ENSP00000441826.2:p.Ile103AspfsTer40
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.743_744insA
  hgvsp: ENSP00000453444.1:p.Ile249AspfsTer40
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.707_708insA
  hgvsp: ENSP00000216780.4:p.Ile237AspfsTer40
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.707_708insA
  hgvsp: ENSP00000380171.4:p.Ile237AspfsTer40
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14347_-253-14346insT
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15630_-28+15631insT
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.305_306insA
  hgvsp: ENSP00000453656.1:p.Ile103AspfsTer40
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.210_211insA
  hgvsp: ENSP00000453528.1:p.Ile72AspfsTer40
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.305_306insA
  hgvsp: ENSP00000454011.1:p.Ile103AspfsTer40
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.305_306insA
  hgvsp: ENSP00000453751.1:p.Ile103AspfsTer?
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14196
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile237AspfsTer40
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-24568301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568301
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568301
    reference: chr 14
allele count: 51
allele frequency: 4.230258792302588e-4
allele num: 120560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.306G>A
  hgvsp: ENST00000559837.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.306G>A
  hgvsp: ENST00000545054.2:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.306G>A
  hgvsp: ENST00000558096.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15630C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.306G>A
  hgvsp: ENST00000560736.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.211G>A
  hgvsp: ENST00000559503.1:c.211G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.708G>A
  hgvsp: ENST00000396973.4:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.306G>A
  hgvsp: ENST00000561286.1:c.306G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+414G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14347C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.708G>A
  hgvsp: ENST00000216780.4:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1299G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.744G>A
  hgvsp: ENST00000559250.1:c.744G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14191
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu236Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

14-24568311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568311
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568311
    reference: chr 14
allele count: 5
allele frequency: 4.141609926610672e-5
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14357C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.221G>A
  hgvsp: ENSP00000453528.1:p.Val75Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.754G>A
  hgvsp: ENSP00000453444.1:p.Val252Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.316G>A
  hgvsp: ENSP00000453751.1:p.Val106Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.316G>A
  hgvsp: ENSP00000454011.1:p.Val106Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+424G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.316G>A
  hgvsp: ENSP00000441826.2:p.Val106Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.316G>A
  hgvsp: ENSP00000453656.1:p.Val106Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15620C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.718G>A
  hgvsp: ENSP00000380171.4:p.Val240Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.316G>A
  hgvsp: ENSP00000453998.1:p.Val106Met
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1309G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.718G>A
  hgvsp: ENSP00000216780.4:p.Val240Met
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val240Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

14-24568311-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568311
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568311
    reference: chr 14
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.316G>T
  hgvsp: ENSP00000453998.1:p.Val106Leu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15620C>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.316G>T
  hgvsp: ENSP00000454011.1:p.Val106Leu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14357C>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.316G>T
  hgvsp: ENSP00000453751.1:p.Val106Leu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.754G>T
  hgvsp: ENSP00000453444.1:p.Val252Leu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.221G>T
  hgvsp: ENSP00000453528.1:p.Val75Leu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.718G>T
  hgvsp: ENSP00000380171.4:p.Val240Leu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+424G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.316G>T
  hgvsp: ENSP00000453656.1:p.Val106Leu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1309G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.718G>T
  hgvsp: ENSP00000216780.4:p.Val240Leu
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.316G>T
  hgvsp: ENSP00000441826.2:p.Val106Leu
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val240Leu
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

14-24568317-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568317
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568317
    reference: chr 14
allele count: 8
allele frequency: 6.624600453785131e-5
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1315G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.322G>A
  hgvsp: ENST00000559837.1:c.322G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.322G>A
  hgvsp: ENSP00000453998.1:p.Asp108Asn
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.760G>A
  hgvsp: ENSP00000453444.1:p.Asp254Asn
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.322G>A
  hgvsp: ENSP00000454011.1:p.Asp108Asn
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.322G>A
  hgvsp: ENSP00000453656.1:p.Asp108Asn
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14363C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.724G>A
  hgvsp: ENSP00000380171.4:p.Asp242Asn
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.227G>A
  hgvsp: ENSP00000453528.1:p.Asp77Asn
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.322G>A
  hgvsp: ENSP00000441826.2:p.Asp108Asn
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+430G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.724G>A
  hgvsp: ENSP00000216780.4:p.Asp242Asn
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15614C>T
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30705
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp242Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-24568317-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568317
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568317
    reference: chr 14
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453751
  ensembl transcript: ENST00000559837
  gene symbol: PCK2
  hgvsc: ENST00000559837.1:c.322G>T
  hgvsp: ENST00000559837.1:c.322G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14363C>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+430G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.322G>T
  hgvsp: ENSP00000453998.1:p.Asp108Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.322G>T
  hgvsp: ENSP00000453656.1:p.Asp108Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.760G>T
  hgvsp: ENSP00000453444.1:p.Asp254Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15614C>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.322G>T
  hgvsp: ENSP00000441826.2:p.Asp108Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.227G>T
  hgvsp: ENSP00000453528.1:p.Asp77Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.322G>T
  hgvsp: ENSP00000454011.1:p.Asp108Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1315G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.724G>T
  hgvsp: ENSP00000216780.4:p.Asp242Tyr
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.724G>T
  hgvsp: ENSP00000380171.4:p.Asp242Tyr
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp242Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

14-24568323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568323
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568323
    reference: chr 14
allele count: 257
allele frequency: 2.127307342107441e-3
allele num: 120810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.328C>T
  hgvsp: ENSP00000441826.2:p.Arg110Trp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.233C>T
  hgvsp: ENSP00000453528.1:p.Arg79Trp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.328C>T
  hgvsp: ENSP00000453998.1:p.Arg110Trp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.730C>T
  hgvsp: ENSP00000380171.4:p.Arg244Trp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14369G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.766C>T
  hgvsp: ENSP00000453444.1:p.Arg256Trp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.730C>T
  hgvsp: ENSP00000216780.4:p.Arg244Trp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.328C>T
  hgvsp: ENSP00000453656.1:p.Arg110Trp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+436C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.328C>T
  hgvsp: ENSP00000454011.1:p.Arg110Trp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15608G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1321C>T
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 14155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11513
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Arg244Trp
num of homozygotes: 1
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

14-24568324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568324
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568324
    reference: chr 14
allele count: 19
allele frequency: 1.57248319925845e-4
allele num: 120828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.329G>A
  hgvsp: ENSP00000441826.2:p.Arg110Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.329G>A
  hgvsp: ENSP00000454011.1:p.Arg110Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.731G>A
  hgvsp: ENSP00000216780.4:p.Arg244Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1170+437G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.234G>A
  hgvsp: ENSP00000453528.1:p.Arg79Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.329G>A
  hgvsp: ENSP00000453656.1:p.Arg110Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.731G>A
  hgvsp: ENSP00000380171.4:p.Arg244Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1322G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.767G>A
  hgvsp: ENSP00000453444.1:p.Arg256Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15607C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.329G>A
  hgvsp: ENSP00000453998.1:p.Arg110Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14370C>T
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11570
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg244Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

14-24568328-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568328
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568329
    reference: chr 14
allele count: 17
allele frequency: 1.406795650518859e-4
allele num: 120842
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.736dupA
  hgvsp: ENSP00000216780.4:p.Ile246AsnfsTer31
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.239dupA
  hgvsp: ENSP00000453528.1:p.Ile81AsnfsTer31
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.334dupA
  hgvsp: ENSP00000454011.1:p.Ile112AsnfsTer31
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.334dupA
  hgvsp: ENSP00000453656.1:p.Ile112AsnfsTer31
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1327dupA
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.772dupA
  hgvsp: ENSP00000453444.1:p.Ile258AsnfsTer31
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.334dupA
  hgvsp: ENSP00000441826.2:p.Ile112AsnfsTer31
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453998
  ensembl transcript: ENST00000560736
  gene symbol: PCK2
  hgvsc: ENST00000560736.1:c.334dupA
  hgvsp: ENSP00000453998.1:p.Ile112AsnfsTer?
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15602dupT
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-438dupA
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.736dupA
  hgvsp: ENSP00000380171.4:p.Ile246AsnfsTer31
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14375dupT
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile246AsnfsTer31
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

14-24568339-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568339
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568339
    reference: chr 14
allele count: 3
allele frequency: 2.482621648460775e-5
allele num: 120840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.782T>G
  hgvsp: ENSP00000453444.1:p.Phe261Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14385A>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.746T>G
  hgvsp: ENSP00000380171.4:p.Phe249Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1337T>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.344T>G
  hgvsp: ENSP00000453656.1:p.Phe115Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-428T>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.344T>G
  hgvsp: ENSP00000454011.1:p.Phe115Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.249T>G
  hgvsp: ENSP00000453528.1:p.Phe84Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.746T>G
  hgvsp: ENSP00000216780.4:p.Phe249Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.344T>G
  hgvsp: ENSP00000441826.2:p.Phe115Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15592A>C
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe249Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

14-24568340-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568340
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568340
    reference: chr 14
allele count: 657
allele frequency: 5.43748137848843e-3
allele num: 120828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.783C>T
  hgvsp: ENST00000559250.1:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.345C>T
  hgvsp: ENST00000561286.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.250C>T
  hgvsp: ENST00000559503.1:c.250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.345C>T
  hgvsp: ENST00000545054.2:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-427C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.747C>T
  hgvsp: ENST00000216780.4:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.345C>T
  hgvsp: ENST00000558096.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1338C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.747C>T
  hgvsp: ENST00000396973.4:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14386G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15591G>A
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 14138
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 30865
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 11580
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 321
genotype quality: GenotypeQuality
hgvs: p.Phe249Phe
num of homozygotes: 2
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-24568341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568341
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568341
    reference: chr 14
allele count: 20
allele frequency: 1.65508109897385e-4
allele num: 120840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.251G>A
  hgvsp: ENSP00000453528.1:p.Gly85Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1339G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15590C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.346G>A
  hgvsp: ENSP00000453656.1:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.748G>A
  hgvsp: ENSP00000216780.4:p.Gly250Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.346G>A
  hgvsp: ENSP00000441826.2:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-426G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14387C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.346G>A
  hgvsp: ENSP00000454011.1:p.Gly116Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.784G>A
  hgvsp: ENSP00000453444.1:p.Gly262Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.748G>A
  hgvsp: ENSP00000380171.4:p.Gly250Ser
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Gly250Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

14-24568341-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568341
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568341
    reference: chr 14
allele count: 4
allele frequency: 3.3101621979477e-5
allele num: 120840
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.748G>C
  hgvsp: ENSP00000216780.4:p.Gly250Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.346G>C
  hgvsp: ENSP00000454011.1:p.Gly116Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.346G>C
  hgvsp: ENSP00000453656.1:p.Gly116Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.251G>C
  hgvsp: ENSP00000453528.1:p.Gly85Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.784G>C
  hgvsp: ENSP00000453444.1:p.Gly262Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1339G>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.748G>C
  hgvsp: ENSP00000380171.4:p.Gly250Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.346G>C
  hgvsp: ENSP00000441826.2:p.Gly116Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-426G>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14387C>G
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15590C>G
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly250Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-24568347-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568347
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568347
    reference: chr 14
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.352G>A
  hgvsp: ENSP00000454011.1:p.Gly118Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.352G>A
  hgvsp: ENSP00000453656.1:p.Gly118Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-420G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15584C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1345G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14393C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.352G>A
  hgvsp: ENSP00000441826.2:p.Gly118Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.754G>A
  hgvsp: ENSP00000380171.4:p.Gly252Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.790G>A
  hgvsp: ENSP00000453444.1:p.Gly264Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.754G>A
  hgvsp: ENSP00000216780.4:p.Gly252Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.257G>A
  hgvsp: ENSP00000453528.1:p.Gly87Ser
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly252Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

14-24568364-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568364
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568364
    reference: chr 14
allele count: 11
allele frequency: 9.110636253706373e-5
allele num: 120738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.274C>T
  hgvsp: ENST00000559503.1:c.274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-403C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1362C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14410G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.369C>T
  hgvsp: ENST00000558096.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.369C>T
  hgvsp: ENST00000545054.2:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.369C>T
  hgvsp: ENST00000561286.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.771C>T
  hgvsp: ENST00000216780.4:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15567G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.807C>T
  hgvsp: ENST00000559250.1:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.771C>T
  hgvsp: ENST00000396973.4:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14309
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser257Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

14-24568365-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568365
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568365
    reference: chr 14
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.772C>G
  hgvsp: ENSP00000216780.4:p.Leu258Val
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15566G>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.275C>G
  hgvsp: ENSP00000453528.1:p.Leu93Val
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1363C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.370C>G
  hgvsp: ENSP00000441826.2:p.Leu124Val
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-402C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.370C>G
  hgvsp: ENSP00000453656.1:p.Leu124Val
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.772C>G
  hgvsp: ENSP00000380171.4:p.Leu258Val
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.370C>G
  hgvsp: ENSP00000454011.1:p.Leu124Val
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14411G>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.808C>G
  hgvsp: ENSP00000453444.1:p.Leu270Val
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu258Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

14-24568372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568372
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568372
    reference: chr 14
allele count: 2
allele frequency: 1.657879903179814e-5
allele num: 120636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-395G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.779G>A
  hgvsp: ENSP00000216780.4:p.Gly260Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.377G>A
  hgvsp: ENSP00000453656.1:p.Gly126Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1370G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.377G>A
  hgvsp: ENSP00000454011.1:p.Gly126Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.377G>A
  hgvsp: ENSP00000441826.2:p.Gly126Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.815G>A
  hgvsp: ENSP00000453444.1:p.Gly272Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.282G>A
  hgvsp: ENSP00000453528.1:p.Gly95Asp
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14418C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15559C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.779G>A
  hgvsp: ENSP00000380171.4:p.Gly260Asp
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly260Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-24568374-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568374
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568374
    reference: chr 14
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.379A>C
  hgvsp: ENSP00000454011.1:p.Lys127Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15557T>G
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1372A>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.817A>C
  hgvsp: ENSP00000453444.1:p.Lys273Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.379A>C
  hgvsp: ENSP00000453656.1:p.Lys127Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.379A>C
  hgvsp: ENSP00000441826.2:p.Lys127Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.284A>C
  hgvsp: ENSP00000453528.1:p.Lys96Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-393A>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.781A>C
  hgvsp: ENSP00000380171.4:p.Lys261Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.781A>C
  hgvsp: ENSP00000216780.4:p.Lys261Gln
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14420T>G
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys261Gln
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

14-24568379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568379
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568379
    reference: chr 14
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.786G>A
  hgvsp: ENST00000396973.4:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.384G>A
  hgvsp: ENST00000558096.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.384G>A
  hgvsp: ENST00000561286.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.289G>A
  hgvsp: ENST00000559503.1:c.289G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1377G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14425C>T
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.786G>A
  hgvsp: ENST00000216780.4:c.786G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.822G>A
  hgvsp: ENST00000559250.1:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.384G>A
  hgvsp: ENST00000545054.2:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-388G>A
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15552C>T
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys262Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

14-24568380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568380
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568380
    reference: chr 14
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.385T>C
  hgvsp: ENSP00000441826.2:p.Cys129Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.385T>C
  hgvsp: ENSP00000453656.1:p.Cys129Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.385T>C
  hgvsp: ENSP00000454011.1:p.Cys129Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.290T>C
  hgvsp: ENSP00000453528.1:p.Cys98Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.787T>C
  hgvsp: ENSP00000216780.4:p.Cys263Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14426A>G
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1378T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.823T>C
  hgvsp: ENSP00000453444.1:p.Cys275Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.787T>C
  hgvsp: ENSP00000380171.4:p.Cys263Arg
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-387T>C
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15551A>G
  variant of: http://identifiers.org/hgnc/8002
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys263Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

14-24568382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568382
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568382
    reference: chr 14
allele count: 4
allele frequency: 3.321928047038501e-5
allele num: 120412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15549G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.387C>T
  hgvsp: ENST00000561286.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1380C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.789C>T
  hgvsp: ENST00000216780.4:c.789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.292C>T
  hgvsp: ENST00000559503.1:c.292C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.387C>T
  hgvsp: ENST00000558096.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-385C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.789C>T
  hgvsp: ENST00000396973.4:c.789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14428G>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.825C>T
  hgvsp: ENST00000559250.1:c.825C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.387C>T
  hgvsp: ENST00000545054.2:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Cys263Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

14-24568382-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568382
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568381
    reference: chr 14
allele count: 1
allele frequency: 8.304820117596252e-6
allele num: 120412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.390delT
  hgvsp: ENSP00000441826.2:p.Phe130LeufsTer21
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.792delT
  hgvsp: ENSP00000380171.4:p.Phe264LeufsTer21
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.295delT
  hgvsp: ENSP00000453528.1:p.Phe99LeufsTer22
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1383delT
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-382delT
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.792delT
  hgvsp: ENSP00000216780.4:p.Phe264LeufsTer21
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14429delA
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.828delT
  hgvsp: ENSP00000453444.1:p.Phe276LeufsTer21
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.390delT
  hgvsp: ENSP00000453656.1:p.Phe130LeufsTer21
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15548delA
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.390delT
  hgvsp: ENSP00000454011.1:p.Phe130LeufsTer21
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe264LeufsTer21
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: CT
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-24568386-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568386
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568386
    reference: chr 14
allele count: 1
allele frequency: 8.31255195344971e-6
allele num: 120300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14432C>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15545C>A
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.391G>T
  hgvsp: ENSP00000453656.1:p.Ala131Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.793G>T
  hgvsp: ENSP00000380171.4:p.Ala265Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1384G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.391G>T
  hgvsp: ENSP00000454011.1:p.Ala131Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.793G>T
  hgvsp: ENSP00000216780.4:p.Ala265Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-381G>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.391G>T
  hgvsp: ENSP00000441826.2:p.Ala131Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.296G>T
  hgvsp: ENSP00000453528.1:p.Ala100Ser
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.829G>T
  hgvsp: ENSP00000453444.1:p.Ala277Ser
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala265Ser
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

14-24568392-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568392
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568392
    reference: chr 14
allele count: 4
allele frequency: 3.335946491418278e-5
allele num: 119906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000454011
  ensembl transcript: ENST00000561286
  gene symbol: PCK2
  hgvsc: ENST00000561286.1:c.397C>G
  hgvsp: ENSP00000454011.1:p.Arg133Gly
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000558674
  gene symbol: PCK2
  hgvsc: ENST00000558674.1:n.1390C>G
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453656
  ensembl transcript: ENST00000558096
  gene symbol: PCK2
  hgvsc: ENST00000558096.1:c.397C>G
  hgvsp: ENSP00000453656.1:p.Arg133Gly
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.302C>G
  hgvsp: ENSP00000453528.1:p.Arg102Gly
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454062
  ensembl transcript: ENST00000561028
  gene symbol: NRL
  hgvsc: ENST00000561028.1:c.-28+15539G>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.835C>G
  hgvsp: ENSP00000453444.1:p.Arg279Gly
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.799C>G
  hgvsp: ENSP00000216780.4:p.Arg267Gly
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.397C>G
  hgvsp: ENSP00000441826.2:p.Arg133Gly
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129535
  ensembl protein: ENSP00000454180
  ensembl transcript: ENST00000558280
  gene symbol: NRL
  hgvsc: ENST00000558280.1:c.-253-14438G>C
  variant of: http://identifiers.org/hgnc/8002
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000380171
  ensembl transcript: ENST00000396973
  gene symbol: PCK2
  hgvsc: ENST00000396973.4:c.799C>G
  hgvsp: ENSP00000380171.4:p.Arg267Gly
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-375C>G
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg267Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

14-24568392-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24568392
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 24568392
    reference: chr 14
allele count: 7
allele frequency: 5.837906359981986e-5
allele num: 119906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453528
  ensembl transcript: ENST00000559503
  gene symbol: PCK2
  hgvsc: ENST00000559503.1:c.302C>T
  hgvsp: ENSP00000453528.1:p.Arg102Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000216780
  ensembl transcript: ENST00000216780
  gene symbol: PCK2
  hgvsc: ENST00000216780.4:c.799C>T
  hgvsp: ENSP00000216780.4:p.Arg267Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100889
  ensembl transcript: ENST00000561050
  gene symbol: PCK2
  hgvsc: ENST00000561050.1:n.1171-375C>T
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000453444
  ensembl transcript: ENST00000559250
  gene symbol: PCK2
  hgvsc: ENST00000559250.1:c.835C>T
  hgvsp: ENSP00000453444.1:p.Arg279Cys
  variant of: http://identifiers.org/hgnc/8725
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000100889
  ensembl protein: ENSP00000441826
  ensembl transcript: ENST00000545054
  gene symbol: PCK2
  hgvsc: ENST00000545054.2:c.397C>T
  hgvsp: ENSP00000441826.2:p.Arg133Cys
  variant of: http://identifiers.org/hgnc/8725
canonical: true
consequence: missense
filter: PASS
hgvs: p.Arg267Cys
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26494
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 832
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5546
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 342
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48065
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6024
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.108735491753207e-5
allele num: 16370
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: -1.781e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.529463e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.005e0

QD
type: SiteQuality
SIO_000300: 8.77e0

FS
type: SiteQuality
SIO_000300: 4.486e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.116e0

GenotypeDepth
all individuals: 126
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26475
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 908
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 290
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6014
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48254
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.909796314258002e-4
allele num: 10310
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012229652388698e-5
allele num: 66396
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.34e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

DP
type: SiteQuality
SIO_000300: 1.53261e6

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 229
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.218620521569583e-4
allele num: 16412
num of homozygotes: 1

InbreedingCoeff
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SIO_000300: 5.43e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

MQ
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SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 1.536067e6

QD
type: SiteQuality
SIO_000300: 3.076e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-2

MQ
type: SiteQuality
SIO_000300: 4.994e1

MQRankSum
type: SiteQuality
SIO_000300: -4.062e0

DP
type: SiteQuality
SIO_000300: 1.536455e6

QD
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 2.0304e1

VQSLOD
type: SiteQuality
SIO_000300: -3.068e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.787e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.555e0

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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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.544e0

DP
type: SiteQuality
SIO_000300: 1.53747e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 9.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.357e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 20
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variant carriers: 0

GenotypeDepth
all individuals: 5
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variant carriers: 0

GenotypeDepth
all individuals: 9
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variant carriers: 0

GenotypeDepth
all individuals: 4
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GenotypeDepth
all individuals: 5612
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

East Asian
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allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.51e-1

VQSLOD
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MQ
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
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SIO_000300: 5.17e-1

FS
type: SiteQuality
SIO_000300: 5.287e0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

BaseQRankSum
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SIO_000300: -1.38e-1

DP
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SIO_000300: 1.542556e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 1.929012345679012e-4
allele num: 10368
num of homozygotes: 0

QD
type: SiteQuality
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VQSLOD
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DP
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SIO_000300: 1.545809e6

InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 5.04e-1

MQRankSum
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SIO_000300: -7.5e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.801e0

GenotypeDepth
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006795357507968e-5
allele num: 66516
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 894
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MQRankSum
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SIO_000300: -2.65e-1

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.545811e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.214e0

VQSLOD
type: SiteQuality
SIO_000300: 8.58e-1

QD
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SIO_000300: 1.048e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.99e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.545646e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.55e-1

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.491e1

FS
type: SiteQuality
SIO_000300: 2.807e0

BaseQRankSum
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SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: 7.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeDepth
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variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.017028189777069e-5
allele num: 66478
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.74e-2

QD
type: SiteQuality
SIO_000300: 1.227e1

BaseQRankSum
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SIO_000300: 8.139999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -7.5e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 1.546884e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

GenotypeDepth
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variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.023913370431643e-5
allele num: 66490
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.389999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.189e0

QD
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SIO_000300: 1.191e1

InbreedingCoeff
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SIO_000300: -2.0e-4

BaseQRankSum
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SIO_000300: -1.097e0

DP
type: SiteQuality
SIO_000300: 1.546693e6

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

African
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allele count: 7
allele frequency: 6.74893945237177e-4
allele num: 10372
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
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

South Asian
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MQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
type: SiteQuality
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FS
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DP
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InbreedingCoeff
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SIO_000300: -2.0e-4

QD
type: SiteQuality
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

South Asian
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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

African
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allele count: 1
allele frequency: 9.646922631680494e-5
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66448
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European (Finnish)
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Other
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.012864933265042e-5
allele num: 66382
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ClippingRankSum
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MQ
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QD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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SIO_000300: 2.297e0

DP
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InbreedingCoeff
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SIO_000300: -2.0e-4

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510437120502674e-5
allele num: 66206
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514325519413653e-5
allele num: 66036
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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MQRankSum
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SIO_000300: -8.78e-1

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

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

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

African
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allele count: 2
allele frequency: 1.961168856638557e-4
allele num: 10198
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.044418059487929e-5
allele num: 65694
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BaseQRankSum
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SIO_000300: -1.262e0

MQRankSum
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SIO_000300: 5.639999999999999e-1

FS
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InbreedingCoeff
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MQ
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SIO_000300: 5.965e1

ReadPosRankSum
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SIO_000300: 1.39e0

ClippingRankSum
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SIO_000300: -7.56e-1

VQSLOD
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SIO_000300: 2.23e0

QD
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SIO_000300: 1.199e1

DP
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SIO_000300: 1.517982e6

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 17

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 14
allele frequency: 2.137796237478622e-4
allele num: 65488
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.752234098475556e-4
allele num: 11414
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele num: 884
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East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -1.899e0

ClippingRankSum
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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MQRankSum
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SIO_000300: 4.78e-1

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

Other
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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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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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MQ
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 9.875567845151097e-5
allele num: 10126
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Other
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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FS
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.534401276621862e-5
allele num: 65172
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.540689612670631e-5
allele num: 64906
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 64802
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African
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 64552
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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African
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MQ
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SIO_000300: 6.0e1

DP
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11210
num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 63426
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European (Finnish)
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African
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East Asian
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South Asian
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Latino
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Other
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MQ
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BaseQRankSum
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FS
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VQSLOD
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

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

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

Latino
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European (Finnish)
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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 num: 61064
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Other
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South Asian
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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European (Finnish)
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Latino
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African
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South Asian
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.684125433662299e-5
allele num: 59378
num of homozygotes: 0

Latino
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East Asian
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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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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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QD
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VQSLOD
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 58872
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Latino
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European (Finnish)
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Other
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East Asian
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African
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DP
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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MQ
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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Latino
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South Asian
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 236
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variant carriers: 0

African
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allele frequency: 4.023335345001006e-4
allele num: 9942
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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QD
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FS
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BaseQRankSum
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MQ
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -2.33e-1

InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.668711656441718e-5
allele num: 13040
num of homozygotes: 0

Other
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ReadPosRankSum
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SIO_000300: 1.96e0

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

African
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allele count: 2
allele frequency: 2.0e-4
allele num: 10000
num of homozygotes: 0

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

European (Non-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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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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num of homozygotes: 0

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

MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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DP
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QD
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MQ
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SIO_000300: 5.938e1

ReadPosRankSum
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SIO_000300: 3.21e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64686
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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South Asian
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allele count: 1
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allele num: 14122
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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South Asian
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Latino
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Other
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European (Non-Finnish)
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African
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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MQRankSum
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FS
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QD
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DP
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQ
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QD
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MQRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Other
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African
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Latino
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South Asian
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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MQ
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QD
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ClippingRankSum
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DP
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InbreedingCoeff
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SIO_000300: -3.0e-4

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

DP
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FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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QD
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GenotypeDepth
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variant carriers: 44

GenotypeDepth
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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: 51

GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 9.708737864077671e-5
allele num: 10300
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 48
allele frequency: 7.25689404934688e-4
allele num: 66144
num of homozygotes: 0

MQ
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SIO_000300: 6.015e1

VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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DP
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FS
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BaseQRankSum
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SIO_000300: -2.396e0

InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 51

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 48
allele frequency: 7.256455221624237e-4
allele num: 66148
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.708737864077671e-5
allele num: 10300
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8606
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 count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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SIO_000300: -5.999999999999999e-4

MQ
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SIO_000300: 6.012e1

ClippingRankSum
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SIO_000300: -7.36e-1

DP
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SIO_000300: 1.71606e6

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

East Asian
type: Population
allele count: 3
allele frequency: 3.483511379470506e-4
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019414837404511e-5
allele num: 66238
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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FS
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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African
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South Asian
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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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MQRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.545347538707633e-5
allele num: 66266
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Other
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East Asian
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African
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allele frequency: 1.940993788819876e-4
allele num: 10304
num of homozygotes: 0

Latino
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South Asian
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allele frequency: 6.05913717886573e-5
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European (Finnish)
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BaseQRankSum
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MQ
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QD
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ClippingRankSum
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VQSLOD
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FS
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DP
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1876
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66266
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.712212e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.614e0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.327e1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

GenotypeDepth
all individuals: 30723
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 80
bin: 8.25e1
variant carriers: 13

GenotypeDepth
all individuals: 432
bin: 9.75e1
variant carriers: 147

GenotypeQuality
all individuals: 44814
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 374
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8196
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
bin: 9.75e1
variant carriers: 256

South Asian
type: Population
allele count: 7
allele frequency: 4.240368306275745e-4
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 186
allele frequency: 2.160780669144981e-2
allele num: 8608
num of homozygotes: 1

African
type: Population
allele count: 2
allele frequency: 1.938735944164405e-4
allele num: 10316
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.915629322268327e-4
allele num: 11568
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.217294900221729e-3
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.814882032667877e-3
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 6.033546518643658e-4
allele num: 66296
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.716495e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 6.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.341e1

GenotypeDepth
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30861
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 222
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45053
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variant carriers: 0

GenotypeQuality
all individuals: 8230
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variant carriers: 0

GenotypeQuality
all individuals: 1877
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variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
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variant carriers: 0

GenotypeQuality
all individuals: 236
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variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
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GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1627
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
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variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.63460140537921e-4
allele num: 16508
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.809790969143064e-4
allele num: 66306
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.698041e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

FS
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

QD
type: SiteQuality
SIO_000300: 1.371e1

GenotypeDepth
all individuals: 282
bin: 9.75e1
variant carriers: 12

GenotypeDepth
all individuals: 442
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1609
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
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GenotypeQuality
all individuals: 8231
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1879
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 45094
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 8.25e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.563329312424608e-4
allele num: 66320
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

MQ
type: SiteQuality
SIO_000300: 5.999e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
type: SiteQuality
SIO_000300: 5.7e-1

DP
type: SiteQuality
SIO_000300: 1.696726e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeDepth
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44915
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.523795162555039e-5
allele num: 66316
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

DP
type: SiteQuality
SIO_000300: 1.695163e6

FS
type: SiteQuality
SIO_000300: 5.543e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.346e1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e-1

GenotypeDepth
all individuals: 95
bin: 6.25e1
variant carriers: 18

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1860
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variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8227
bin: 6.75e1
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GenotypeQuality
all individuals: 1660
bin: 9.75e1
variant carriers: 653

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

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1782
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 44906
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 9
allele frequency: 9.977827050997782e-3
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.908667830133799e-4
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 344
allele frequency: 5.18775448650279e-3
allele num: 66310
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.634161114476075e-4
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 153
allele frequency: 1.777416356877324e-2
allele num: 8608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 140
allele frequency: 2.117362371445856e-2
allele num: 6612
num of homozygotes: 2

QD
type: SiteQuality
SIO_000300: 1.387e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.12e0

DP
type: SiteQuality
SIO_000300: 1.702241e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeDepth
all individuals: 1568
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
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GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
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GenotypeQuality
all individuals: 8316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.540340823405218e-5
allele num: 66310
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.814882032667877e-3
allele num: 6612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

DP
type: SiteQuality
SIO_000300: 1.659644e6

GenotypeDepth
all individuals: 38
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1805
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 45475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 3.016136329362087e-5
allele num: 66310
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 7.7e-2

ClippingRankSum
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QD
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MQ
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FS
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 4.76e-1

InbreedingCoeff
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SIO_000300: 2.7e-3

GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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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: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Latino
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ReadPosRankSum
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SIO_000300: -7.28e-1

QD
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ClippingRankSum
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FS
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DP
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

Other
type: Population
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allele num: 902
num of homozygotes: 0

African
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allele frequency: 6.789524733268671e-4
allele num: 10310
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.018776791644026e-5
allele num: 66252
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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DP
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

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

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

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

East Asian
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Other
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Latino
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FS
type: SiteQuality
SIO_000300: 1.4495e1

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

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: 2
allele frequency: 3.021787084881999e-5
allele num: 66186
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

European (Finnish)
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ClippingRankSum
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SIO_000300: -3.5e-1

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

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

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

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

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

Latino
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allele frequency: 8.656509695290859e-5
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (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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FS
type: SiteQuality
SIO_000300: 3.212e0

MQRankSum
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SIO_000300: -2.34e-1

VQSLOD
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DP
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.086e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.11e0

InbreedingCoeff
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SIO_000300: 8.399999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.402e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.05638494382703e-5
allele num: 66046
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European (Finnish)
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Other
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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DP
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

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

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

European (Non-Finnish)
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allele num: 66046
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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South Asian
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BaseQRankSum
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SIO_000300: -1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQ
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ClippingRankSum
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VQSLOD
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QD
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FS
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DP
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SIO_000300: 1.652472e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
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SIO_000300: 4.8e-3

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65984
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

BaseQRankSum
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 1.105e0

MQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.69e1

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-2

DP
type: SiteQuality
SIO_000300: 1.650338e6

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

Latino
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allele frequency: 8.680555555555556e-5
allele num: 11520
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.562321309082061e-5
allele num: 65756
num of homozygotes: 0

Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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FS
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InbreedingCoeff
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MQ
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